home Endocrinology Connective tissue dysplasia. Connective tissue dysplasia syndrome: complex therapy, treatment and prevention of dysplasia

Connective tissue dysplasia. Connective tissue dysplasia syndrome: complex therapy, treatment and prevention of dysplasia

There are such internal disorders that lead to the emergence of a whole bunch of diseases in different areas - from diseases of the joints to problems with the intestines, and connective tissue dysplasia is a prime example of them. Not every doctor is able to diagnose it, since in each case it is expressed by its own set of symptoms, so a person can unsuccessfully treat himself for years without suspecting what is happening inside him. Is this diagnosis dangerous and what measures should be taken?

What is connective tissue dysplasia

In a general sense, the Greek word "dysplasia" means a violation of education or development, which can be applied both to tissues and to internal organs in general. This problem is always congenital, since it appears in the prenatal period. If connective tissue dysplasia is mentioned, it means a genetically heterogeneous disease characterized by a disturbance in the development of connective tissue. The problem is polymorphic in nature, mainly occurs in young age.

In official medicine, the pathology of the development of connective tissue can also be found under the names:

hereditary collagenopathy;
hypermobility syndrome.

Symptoms

The number of signs of connective tissue disorders is so great that one by one the patient can associate them with any disease: the pathology is reflected in most internal systems- from nervous to cardiovascular and even expressed in the form of unreasonable weight loss. Often this type of dysplasia is detected only after external changes, or diagnostic measures taken by a doctor for another purpose.

Among the most striking and detected with a high frequency of signs of connective tissue disorders are:

Autonomic dysfunction, which can manifest itself in the form of panic attacks, tachycardia, fainting, depression, nervous exhaustion.
Heart valve problems, including prolapse, heart abnormalities, heart failure, myocardial pathology.
Asthenization - the patient's inability to subject himself to constant physical and mental stress, frequent psycho-emotional breakdowns.
X-shaped deformation of the legs.
Varicose veins, spider veins.
Joint hypermobility.
hyperventilation syndrome.
Frequent bloating stomach, caused by digestive disorders, pancreatic dysfunction, problems with bile production.
Pain when trying to pull back the skin.
Problems with the immune system, vision.
Mesenchymal dystrophy.
Anomalies in the development of the jaw (including bite).
Flat feet, frequent dislocations of the joints.

Doctors are sure that people who have connective tissue dysplasia in 80% of cases have psychological disorders. Light form depression, constant anxiety low self-esteem, lack of ambition, dissatisfaction with the current state of affairs, reinforced by unwillingness to change anything. However, even autism can coexist with a diagnosis of connective tissue dysplasia syndrome.

In children

At birth, a child may be deprived of phenotypic signs of connective tissue pathology, even if it is collagenopathy, which has vivid clinical manifestations. In the postnatal period, defects in the development of connective tissue are also not excluded, so such a diagnosis is rarely made for a newborn. The situation is also complicated by the natural state of connective tissue for children under 5 years old, due to which their skin stretches too much, ligaments are easily injured, and hypermobility of the joints is observed.

In children older than 5 years, with suspected dysplasia, you can see:

changes in the spine (kyphosis / scoliosis);
deformations chest;
poor muscle tone;
asymmetrical shoulder blades;
malocclusion;
fragility bone tissue;
increased lumbar flexibility.

Causes

The basis of changes in the connective tissue is genetic mutations, therefore, its dysplasia in all forms can not be recognized as a disease: some of its manifestations do not worsen the quality of human life. Dysplastic syndrome is caused by changes in the genes that are responsible for the main protein that forms the connective tissue - collagen (less often - fibrillin). If a failure occurs during the formation of its fibers, they will not be able to withstand the load. Additionally, magnesium deficiency is not excluded as a factor in the appearance of such dysplasia.

Classification

Doctors today have not come to a consensus regarding the classification of connective tissue dysplasia: it can be divided into groups about the processes that occur with collagen, but this approach allows you to work only with hereditary dysplasia. The following classification is considered more universal:

A differentiated disorder of the connective tissue, which has an alternative name - collagenopathy. Dysplasia is hereditary, the signs are clear, the diagnosis of labor disease is not.
Undifferentiated connective tissue disorder - this group includes the remaining cases that cannot be attributed to differentiated dysplasia. The frequency of its diagnosis is many times higher, and in people of all ages. A person diagnosed with an undifferentiated connective tissue pathology often does not need treatment, but should be under medical supervision.

Diagnostics

Mass is associated with this kind of dysplasia. controversial issues, since specialists practice several scientific approaches in the issue of diagnostics. The only point that is beyond doubt is the need for clinical and genealogical research, since connective tissue defects are congenital. Additionally, to clarify the picture, the doctor will need:

systematize the patient's complaints;
measure the body by segments (for connective tissue dysplasia, their length is relevant);
evaluate joint mobility;
let the patient try to grasp his wrist with his thumb and little finger;
perform an echocardiogram.

Analyzes

Laboratory diagnostics dysplasia of this type is to study the analysis of urine for the level of hydroxyproline and glycosaminoglycans - substances that appear during the breakdown of collagen. Additionally, it makes sense to check the blood for frequent mutations in PLOD and general biochemistry (detailed analysis from a vein), metabolic processes in connective tissue, markers of hormonal and mineral metabolism.

Which doctor treats connective tissue dysplasia

In children, the diagnosis and development of therapy ( entry level) is dealt with by a pediatrician, since there is no doctor who works exclusively with dysplasia. After that, the scheme is the same for people of all ages: if there are several manifestations of connective tissue pathology, you will need to take a treatment plan from a cardiologist, gastroenterologist, psychotherapist, etc.

Treatment of connective tissue dysplasia

There is no way to get rid of this diagnosis, since this type of dysplasia affects changes in the genes, however comprehensive measures can alleviate the patient's condition if he suffers from clinical manifestations of connective tissue pathology. The exacerbation prevention scheme is mainly practiced, which consists in:

well-chosen physical activity;
individual diet;
physiotherapy;
medical treatment;
psychiatric care.

It is recommended to resort to surgical intervention for this type of dysplasia only in case of chest deformity, serious disorders of the spine (especially the sacral, lumbar and cervical regions). The syndrome of connective tissue dysplasia in children requires additional normalization of the daily regimen, the selection of constant physical activity - swimming, cycling, skiing. However, a child with such dysplasia should not be given to professional sports.

Without the use of drugs

Doctors advise starting treatment with the exclusion of high physical exertion, hard work, including mental work. The patient needs to take a course of exercise therapy annually, if possible, having received a lesson plan from a specialist and performing the same actions on his own at home. Additionally, you will need to visit the hospital to undergo a set of physiotherapy procedures: ultraviolet irradiation, rubdowns, electrophoresis. It is not excluded the appointment of a corset that supports the neck. Depending on the psycho-emotional state, a visit to a psychotherapist may be prescribed.

For children with this type of dysplasia, the doctor prescribes:

Massage of the limbs and back with an emphasis on cervical region. The procedure is carried out every six months, 15 sessions each.
Wearing an arch support if a hallux valgus is diagnosed.

Diet

The emphasis in the diet of a patient who has been diagnosed with connective tissue pathology is recommended by experts to be on protein foods, but this does not imply the complete exclusion of carbohydrates. The daily menu for dysplasia must necessarily consist of lean fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables, unsweetened fruits. In a small amount in the daily diet, you need to use nuts. If necessary, a vitamin complex can be prescribed, especially for children.

Taking medication

Drinking drugs should be under the supervision of a doctor, since there is no universal pill for dysplasia and it is impossible to predict the reaction of a particular organism even to the safest medication. Therapy to improve the condition of the connective tissue with its dysplasia may include:

Substances that stimulate the natural production of collagen - ascorbic acid, B-group vitamins and sources of magnesium (Magnerot).
Drugs that normalize the level of free amino acids in the blood - Glutamic acid, Glycine.
Means that help mineral metabolism - Alfacalcidol, Osteogenon.
Preparations for the catabolism of glycosaminoglycans, mainly on chondroitin sulfate - Rumalon, Chondroxide.

Surgical intervention

Due to the fact that this pathology of the connective tissue is not considered a disease, the doctor will recommend the operation if the patient suffers from deformation of the musculoskeletal system, or dysplasia can be fatal due to problems with the vessels. In children, surgical intervention is practiced less frequently than in adults, doctors try to get by with manual therapy.

Video

Connective tissue dysplasia is a severe pathology that can develop in any joint. Delayed treatment may cause disability. Therefore, at the first symptoms of the disease, you should consult a doctor.

What it is

Connective tissue dysplasia is a disease that affects all organs and systems in which connective tissue is present. The disease is genetically determined, has a wide range of symptoms and is caused by impaired collagen production.

Because highest value connective tissue plays in the musculoskeletal system, a greater number of clinical signs are concentrated in this area. Due to collagen, shape preservation is possible, and elastin provides proper contraction and relaxation.

Connective tissue dysplasia is genetically determined. Having identified the disease, it is possible to predict in advance how the mutation will occur. Because of them, abnormal structures arise that are unable to carry out standard loads.

Disease classification

In ICD-10, connective tissue dysplasia is assigned the number M35.7. Pathology is divided into two large groups:

undifferentiated dysplasia;
Differentiated dysplasia.

The undifferentiated form occurs in 80% of cases. The symptoms that appear cannot be correlated with any an existing disease. The signs are scattered, although they can suggest the presence of a developing pathology.

Differentiated connective tissue dysplasia has a well-defined form of inheritance, a characteristic set of clinical symptoms and a group of defects. There are 4 main forms:

Marfan syndrome;
Flaccid skin syndrome;
Eilers-Danlos syndrome;
Imperfect osteogenesis.

Marfan syndrome is characterized by the following clinical features:

Along with these symptoms of connective tissue dysplasia, the heart is affected. Patients are diagnosed with mitral valve prolapse, aortic aneurysm, and possible subsequent heart failure.

In flaccid skin syndrome, connective tissue dysplasia is expressed by damage to the elasticity fibers. The skin is easy to stretch, it is able to form loose folds.

Eilers-Danlos syndrome is characterized by abnormal joint mobility. This leads to frequent dislocations, subluxations and constant pain when moving.

In imperfect osteogenesis, the pathology is based on a violation of the structure of bone tissue. Its density becomes low, which leads to particular fragility, frequent fractures and slow growth. Children have uneven posture.

Reasons for the development of the disease

The causes of the development of connective tissue dysplasia are associated with the following factors:

Inheritance of a mutated gene;
Influence of external unfavorable factors.

On a note!
An anomaly of development can occur against the background of a violation of protein metabolism and a lack of vitamin and mineral compounds.

External negative factors that can increase the likelihood of developing connective tissue dysplasia include the following:

The presence of bad habits;
Unbalanced diet;
Living in a territory with poor ecology;
Transferred toxicosis during pregnancy;
Frequent stressful situations;
Severe intoxication in history;
Lack of magnesium in the body.

All this can increase the risk of developing connective tissue dysplasia. CTD often occurs due to genetics, but in the absence of pathogenic factors, it is easier.

Symptoms of the disease

Connective tissue dysplasia can be determined by a variety of characteristic symptoms. Pathology covers the musculoskeletal, cardiovascular, digestive and other systems.

Understanding what connective tissue dysplasia is, you can expect the following symptoms:

Fast fatiguability;
Weakness;
Decreased performance;
Headache;
Flatulence;
Stomach ache;
Low pressure;
Frequent pathologies of the respiratory tract;
low appetite;
Deterioration of well-being after small loads.

Some patients have experienced muscle dysplasia. They felt severe weakness in the muscles.

On a note!
People with connective tissue dysplasia can be identified by abnormally large growth or lengthening of certain parts of the body, by abnormal fragility and painful thinness.

Connective tissue dysplasia in children and adults can manifest itself:

hypermobility;
contracture;
Dwarfism;
Fragility.

External clinical symptoms include:

Decrease in body weight;
Diseases spinal column;
Change in the shape of the chest;
Deformation of body parts;
Abnormal ability to bend fingers 90 degrees toward the wrist or arch elbow joints V reverse side;
Lack of skin elasticity and its increased extensibility;
flat feet;
Deceleration and acceleration of jaw growth;
Vascular pathologies.

On a note!
All these disorders indicate the presence of connective tissue dysplasia. One patient may have several symptoms or a whole group. It all depends on how badly the pathology has struck and what type it is.

Complications

Connective tissue dysplasia can lead to the following consequences:

Tendency to injury - dislocations, subluxations and fractures;
Systemic pathologies;
Diseases of the foot, knee and hip joint;
Somatic pathologies;
severe heart disease;
Mental disorders;
Eye pathology.

No doctor can guarantee a cure for systemic pathology, no matter what method is used. However, competent therapy can reduce the risk of complications and improve the patient's quality of life.

Diagnostic Measures

Diagnosis of connective tissue dysplasia is carried out in medical institution. First, the doctor examines the patient, collects information about the genetic predisposition to this pathology and makes a presumptive diagnosis.

To confirm the disease, you will need to undergo the following studies:

Electromyography;
X-ray of bone tissue.

It is impossible to make a diagnosis using only one method. If a disease is suspected, a genetic examination may be ordered to identify mutations.

To determine how badly the disease affected the internal organs, you need to visit different specialists. May be required complex treatment multiple systems at the same time.

Treatment

Treatment of connective tissue dysplasia in adult patients is carried out by several methods. Both drug and non-drug therapies are used. Due to the variety of symptoms, even experienced doctors find it difficult to find effective treatment methods and the right drugs.

Drug therapy

Drug treatment includes substitution therapy. Purpose of application medicines- stimulate the production of collagen in the body. These can be drugs of the following groups:

Chondroprotectors (chondroitin and glucosamine);
Vitamins (especially group D);
Microelement complexes;
Magnesium preparations.

Magnesium therapy - an important part in the fight against muscular dysplasia. This trace element performs many functions and is indispensable in maintaining the following structures:

cardiac muscle;
Respiratory organs;
Blood vessels.

Lack of magnesium leads to disorders in the brain. Patients suffer severely from dizziness, headaches and migraines. Seizures and sleep disturbances are possible. The consequences of mesenchymal dysplasia can be reduced with well-designed medical therapy.

Non-drug treatment

In addition to taking medications prescribed by a doctor, in diseases of the connective tissue, it is important to strengthen muscles and bones by other methods. Only an integrated approach will allow you to maintain a normal quality of life, despite the disease. It is worth considering several ways necessary for the patient.

Daily regime

All patients with congenital pathologies connective tissue should correctly compose the daily regimen. It is important to alternate night rest with reasonable activity during the daytime. To sleep, it is important to take at least 8-9 hours.

When treating children, it is necessary to provide them with a full daytime sleep. An active day should always start with exercise.

Sports activities

After consulting with your doctor, you can go in for sports. Training must continue throughout life. Regularity is important.

Sports should not be professional, as it will contribute to frequent injuries, which is contraindicated in connective tissue disease. Gentle sports training will strengthen muscles and tendons without provoking the development of inflammatory and dystrophic processes.

Swimming;
Bike;
Badminton;
Walking up the stairs;
Frequent walks.

Regular dosed exercises can strengthen the body. Protective forces increase, a person feels stronger.

Massage

Massage should be performed by a medical professional. The course of procedures consists of 20 sessions. Particular attention should be paid to the back, collar area and joints of the limbs.

Diet

The patient's diet should be rich in the following protein foods:

Fish;
Meat;
legumes;
Seafood.

There must be a balance between all important vitamins and micronutrients. A high content of vitamin C and E is especially needed.

Surgery

Such an intervention is extremely rare in severe pathology. It can be carried out if dysplasia has caused violations that are life-threatening or the onset of complete disability.

Treatment is prescribed by a doctor. The sooner treatment is started, the greater the chance of a full recovery. Therefore, it is important to consult a specialist at the first symptoms.

Newly released fresh medical term- dysplasia - means any possible types of pathologies in the development of different parts of the human body, various organs and a number of tissues. The appearance of pathologies begins to form at the stage of embryonic development of the fetus, becomes the result of improper maturation or structure of cells, their configuration, size. It affects the incorrect creation of tissues, the pathologies of an organ or organ system that have appeared.

However, dysplasia is more often detected in a growing child, examples of the manifestation of pathologies in adults who have taken place are known. Dysplasia is not a disease, but pathological changes in organ structure.

Common causes of pathologies are genetic abnormalities in the formation of the fetus. Dysplasia develops in case of hormonal disruptions in a woman's body during pregnancy or oxygen starvation vessels, including the inner walls of vessels under their direct mechanical stress. An important factor becomes polluted or unfavorable ecology, atmosphere, water in the area where the expectant mother lives. Perhaps gynecological difficulties with the health of the expectant mother, frequent infectious diseases contributed to the development of pathology.

Pathology can be passed from generation to generation with less noticeable symptoms, accumulate for future generations. If both parents have a predisposition to dysplasia, gene abnormalities are identified, the health of the children is in question. Acquired dysplasia is often the result of birth trauma or postpartum.

A number of widespread types of dysplasia are divided:

, or fibromuscular, is characterized by a large growth of cells in the walls of the arteries. Pathology occurs mainly in the carotid arteries or renal. The main trend is the narrowing of the arteries.
Dysplasia of the hip joint.
or muscular dysplasia.
Dysplasia of the cervix.
, lack of tension of the musculoskeletal apparatus of the knee joint.

A complex pathology is considered soft tissue dysplasia in a child or muscle dysplasia. Pathology is formed in utero, at the genetic level. During the development of the embryo, a failure occurs at the time of the formation of connective tissue cells, provoking difficulties with muscles, internal organs - connective tissue in the body is the main building material. With muscle dysplasia, abnormalities in the functioning of the body as a whole appear, complex pathology is difficult to make a correct diagnosis.

Deviations associated with connective tissue dysplasia become noticeable gradually as the child develops and his physical growth. Valgus structure of the foot, general curvature of the spine, deformity of the chest, increased mobility of the joints, possible disturbances in the work of the heart, problems with the digestive organs, falling vision, pathologies vascular system. A row characterizing muscular dysplasia in a child is sounded. Deviations are identified individually or jointly.

Treatment of muscular dysplasia

Dysplasia is not a disease, but a deviation at the genetic level, pathologies cannot be treated. The main ways to support children are preventive measures, contributing to the reduction of signs of dysplasia, slowing down or stopping the syndrome. Obligatory immediate medical intervention will help speed up muscle recovery.

The main methods of treatment and prevention of muscular dysplasia are compliance balanced diet, physiotherapy and specially designed gymnastic exercises, the use of medications only as prescribed by the attending physician. At the stage of prolonged non-intervention, surgical treatment may be required.

Mandatory psychological support for the child, frank complicity in the procedures will help the baby to tune in to the path of recovery, it is easier to transfer the procedures. After a correct diagnosis, parents should not relax, believing that the trips to the doctors are over, and the treatment is not difficult. Dysplasia is not a terrible pathology, but a deviation. For a positive result, the participation of all family members during the recovery period of the child will be required.

Non-drug treatment consists of mandatory therapeutic massage, repeated in several courses, non-professional sports - table tennis, swimming or badminton. Individual gymnastic exercises, physiotherapy, including dousing and will help. Nutrition for children is supposed to be dense, in order to achieve the required level of collagen. Mandatory use of fish in the daily diet, preference should be given to legumes, meat and seafood. Fatty broths, a large amount of high-quality cheese, a variety of fruits and vegetables are important for a child. In consultation with the attending physician, you can use biological supplements.

With drug treatment, the doctor selects the optimal set of drugs individually for each child. The course of treatment with tablets lasts up to 2 months, continues only as prescribed by the doctor. The repetition of courses of treatment can be extended repeatedly, the drugs are changed to achieve the best result.

Glycine and glutamic acid are taken to standardize the amino acid level. In order to speed up the development of collagen production, ascorbic acid and magnesium citrate will be prescribed. To normalize mineral metabolism, alfacalcidol and osteogenon will be advised. In order to improve the bioenergetic state of the child, the use of lecithin, riboxin is mandatory.

The main points for operable intervention are extremely severe cases development of muscular dysplasia. Pronounced vascular pathologies or a strong curvature of the spine, severe deformity of the chest are possible. Surgery is mandatory if the syndrome is at risk later life a child, or with developed deviations, it is impossible to live normally.

Methods of rehabilitation

The strict implementation of the above recommendations will allow the child to adapt to the external environment, catch up with peers in development, with the right motivation for the baby, it is possible to become better than peers and gain full health. Do not forget that dysplasia reveals a hereditary character. Involving all family members in simple procedures will help improve health and create a cozy atmosphere in the house.

Contraindications for children with muscular dysplasia

Heavy or contact types sports contribute to the overstrain of muscle tissue and its destruction;
Psychological stress contributes nervous tension and lack of oxygen entering the body;
Sprains of the spine will lead to injuries and the development of joint dysplasia.

Among the little patients of the pediatrician there are special group children. These are not children with any serious diseases that disrupt mental and physical development, not children who constantly have a temperature and get sick, not allergic children whose constant companion is dermatitis - they ate something wrong, running to the doctor. Nevertheless, these children visit the pediatrician - and not only him - no less often, and their card is replete with records of various specialists and already often has a special thickness of "personal file" even in early childhood.

As often happens: a child is born, happy parents go through all the established examinations of specialists, and each of them finds some problems in the child according to their profile, sometimes even later than attentive mom and dad have time to notice them. Very often, recommendations - and not without reason - come down to observation: hypersensitive pancreas and frequent regurgitation - will outgrow, minor vesicoureteral reflux - observe and do not overcool, valgus feet - wear prophylactic insoles, everything should return to normal by school, reduced muscle tone- so massage more often do it.

Meanwhile, time passes, but there is no positive dynamics: the child does not outgrow the problems, on the contrary, they worsen with age. Each specialist clearly sees his pathology, but cannot judge its cause with certainty. Meanwhile, very often there is a complex problem, and there is a reason for it.

Today we will talk about these special children and their problem - the problem connective tissue dysplasia . In the domestic literature, it is described little, although some Russian schools (Moscow, St. Petersburg, Omsk) have been studying it in detail for a long time. Moreover, separate surveys of organized groups of schoolchildren from Russian cities (a sample of about 1000 people) show that manifestations of connective tissue dysplasia, of varying severity, are observed in almost 50% of children!

The fact is that connective tissue dysplasia is not a separate disease, but a complex of symptoms caused by a single cause: a genetic quantitative and / or qualitative defect in the synthesis of proteins that form the extracellular matrix (collagen, fibrillin). As a result, a child is born with defective connective tissue. And connective tissue is the cement of the intercellular space in the body.

From the course of anatomy, it is known that it, as it were, fills the voids in the body. It is the only one of all fabrics that has intercellular substance, produced by the cells themselves, with a very complex composition - nature has provided everything in it: polysaccharides, proteins, collagen and elastic fibers, minerals.

In addition, its full-fledged composition implies a certain safety for the body: the return of the tissue to its original state after stretching. Of course, any house can stand on such cement ... if there are no problems with cement initially.

We will not touch on the problems associated with the so-called differentiated connective tissue dysplasia, which are very serious diseases that lead to serious and irreversible changes in the internal organs, and sometimes, with a particularly severe course, ending in death. There are relatively few such children and, since the problem is “localized” in certain organs of the body systems (for example, the aorta, eyes, spine with Marfan's syndrome, skin and joints in Ehlers-Danlos syndrome), the diagnosis is made relatively quickly.

The object of our attention will be children with the so-called undifferentiated connective tissue dysplasia (hereinafter VAT). Undifferentiated - because in this case, the connective tissue, regardless of its location, everywhere, throughout the body, carries a hidden defect. As a result, the disease becomes multi-organ, i. affecting many organs.

There are so many of these lesions and they are so diverse that it is often difficult for the doctor to tie them together and see beyond the group. individual symptoms systemic violation. And the possibilities of genetic diagnosis of UCTD are quite limited around the world, not to mention in Ukraine - if severe forms dysplasia, which was mentioned above, can be diagnosed with an experienced eye of a geneticist and somehow in a laboratory, then we can’t talk about the possibility of laboratory confirmation of the diagnosis of UCTD ...

What should alert the parent of a child who has a huge list of various pathologies from different specialists? How can a child be suspected of having UCTD?

Since there are many manifestations of UCTD and they are extremely diverse, they are usually classified according to external and visceral (associated with changes in internal organs) signs. You should be alert if your child has a combination of at least 3-5 of the following signs of involvement in the process various organs and systems.

Diagnoses can be made by specialized specialists, and sometimes they are an accidental find:

1. Skeletal system(as noted by the orthopedist):

chest deformity (keeled or funnel-shaped);
kyphosis, scoliosis, spondylolisthesis;
dysplasia hip joints;
fragility of bones;
joint hypermobility, frequent dislocations and subluxations;
disproportionate body segments;
severe deformities of the joints, spine;
umbilical hernia (often these children are born with an abnormally enlarged umbilical ring);
X-and O-shaped curvature of the legs;
hallux valgus feet or knees;
longitudinal or transverse flat feet;
clubfoot.

2. Muscular system (as noted by a neurologist):

pronounced hypotonicity (reduced tone) of the muscles of the upper and / or lower extremities, often persistent even with intensive exposure and rehabilitation;
tendency to sprains, tears and ruptures of ligaments and tendons;
increased fatigue, sleep disturbances;
frequent pain in the region of the heart, dizziness, headache;
frequent pain in the back and joints (cervicalgia, thoracalgia, lumbalgia, polyarthralgia);
arterial hypotension.

3. Eyes (as noted by the optometrist):

myopia (nearsightedness) of medium or high degree;
astigmatism;
anomalies in the development of the fundus, sclera and cornea;
an increase in the long axis of the eyeball (if you had an ultrasound);
subluxation of the lens;

4. Teeth and maxillofacial anomalies of development (as noted by the dentist and orthodontist):

incorrect and / or untimely growth of teeth;
hypoplasia of tooth enamel;
short frenulum of the tongue;
changes in the size of the lower jaw;
"Gothic sky";
early periodontal disease and frequent gingivitis (inflammation of the gums).

5. Cardiovascular system (as noted by the cardiologist):

mitral valve prolapse (MVP) (special attention should be paid if a myxomatous change in the leaflets is observed during MVP - organic disturbance, consisting in a change in the valve leaflets, which can lead to serious disturbances in the work of the heart) (according to ultrasound);

expansion of the ascending aorta or a bicuspid aortic valve (according to ultrasound);

other minor heart anomalies: tricuspid and aortic valve prolapse, small aneurysm interatrial septum, severe asymmetry of the tricuspid aortic valve, multiple false chords and abnormal trabeculae of the left ventricle, additional chords in the cavity of the heart, open foramen ovale (according to ultrasound);

tendency to arrhythmias and syncope (fainting);

causeless tachycardia (increased heart rate over 60 beats / min) at rest or occurring suddenly;

varicose veins already in adolescence.

6. Bronchopulmonary system (as noted by the pulmonologist):

polycystic lung;
tendency to frequent bronchitis and pneumonia (as well as ENT diseases);
tracheobronchomalacia;
tracheobronchomegaly;
hyperventilation syndrome;
sharp respiratory syndromes up to the collapse of the trachea and large bronchi.

7. Gastrointestinal tract (as noted by the gastroenterologist):

insufficiency of the cardia of the stomach;

hernia of the esophagus and diaphragm;

diverticula of the esophagus and various parts of the intestine;

anomalies in the shape and location of the stomach, duodenum and gallbladder (according to ultrasound);

dolichosigma, megacolon;

gastroesophageal and/or duodenogastric reflux;

ptosis (omission) of the abdominal organs;

permanent dyspepsia.

8.Kidneys and genitourinary system(as noted by a nephrologist, urologist):

polycystic kidney disease;
pelvic-renal and/or vesicoureteral reflux;
ptosis (omission) of the kidneys and / or Bladder;
varicocele (dilation of the veins of the spermatic cord) in boys.

9. General external and visceral signs (as noted by the pediatrician):

a tendency to form hematomas, increased bleeding of blood vessels (sometimes the vessels directly shine through under the skin), a tendency to nasal and rectal bleeding;
skin hyperextensibility, thin and velvety skin;
a tendency to the appearance of stretch marks (stretch marks), especially during periods of intensive growth and puberty;
tendency to the appearance of rough scars at the site of injury;
often characteristic appearance: protruding or large ears, deep-set eyes, an unusual shape of the skull, protruding collarbones / shoulder blades;
the so-called "asthenic type" of addition: malnutrition (lack of weight) in infancy, increased thinness in adolescence (body mass index (BMI) less than 17) - despite the fact that the appetite in such children is often increased, thin and light bones, increased fatigue, lethargy, general weakness, difficulty concentrating and concentrating (while the child may be hyperactive), decreased performance, poor sleep, etc.

Vilchinskaya Tatiana

Connective tissue dysplasia is a violation of the formation and development of connective tissue, observed both at the stage of embryonic growth and in people after their birth. In general, the term dysplasia refers to any violation of the formation of tissues or organs, which can occur both in utero and postnatally. Pathologies occur due to genetic factors, affect both the fibrous structures and the main substance that makes up the connective tissue.

Sometimes you can find such names as connective tissue dysplasia, congenital connective tissue insufficiency, hereditary collagenopathy, hypermobility syndrome. All these definitions are synonymous with the main name of the disease.

Genetic mutations occur anywhere, as connective tissue is distributed throughout the body. The chains of elastane and collagen, of which it consists, under the influence of improperly functioning, mutated genes, are formed with disturbances and are unable to withstand the mechanical loads placed on them.

This genetic pathology classified as follows:

Dysplasia is differentiated. It is caused by a hereditary factor of a certain type, it is clinically pronounced. Gene defects and biochemical processes are well understood. All diseases associated with differentiated dysplasia are called collagenopathies. This name is due to the fact that the pathology is characterized by violations of the formation of collagen. This group includes such diseases as: flaccid skin syndrome, Marfan's syndrome and Ehlers-Danlos syndromes (all 10 types).

Dysplasia is undifferentiated. A similar diagnosis is made when the signs of a disease that has affected a person cannot be attributed to a differentiated pathology. This type of dysplasia is the most common. The disease affects both children and young people.

It is worth noting that people with this kind of dysplasia are not considered sick. They just have the potential to be prone to a lot of pathologies. This causes them to be constantly under medical supervision.

The pathology manifests itself with many symptoms. Their severity can be mild or severe.

The disease manifests itself in each patient individually, however, it was possible to combine the symptoms of impaired connective tissue formation into several large groups of syndromes:

Neurological disorders. They occur very often, in almost 80% of patients. Autonomic dysfunction is expressed in panic attacks, palpitations, dizziness, increased sweating, fainting and other manifestations.

Asthenic syndrome, which is characterized by low performance, fatigue, severe psycho-emotional disorders, inability to endure increased physical activity.

Violations in the activity of the heart valves or valvular syndrome. It is expressed in myxomatous valve degeneration (a progressive condition that changes the anatomy of the valve leaflets and reduces their performance) and in prolapse of the heart valves.

Thoracodiaphragmatic syndrome, which is expressed in violations of the structure of the chest, leading to its funnel-shaped or keeled deformation. Sometimes there is a deformation of the spinal column, expressed in scoliosis, hyperkyphosis, kyphoscoliosis.

When sick, they also suffer blood vessels. This is expressed in varicose veins, in muscle lesion arteries, in the appearance spider veins, in damage to the inner layer of vascular cells (endothelial dysfunction).

Syndrome sudden death, which is caused by disturbances in the functioning of the valves and blood vessels of the heart.

Low body weight.

Increased joint mobility. For example, a patient suffering from dysplasia may bend the little finger in the opposite direction by 90 degrees, or overextension the elbows and knees at the joints.

Valgus deformity of the lower extremities, when the legs, due to changes, have the shape of the letter X.

Disorders of the gastrointestinal tract, expressed in constipation, abdominal pain or bloating, decreased appetite.

Frequent diseases of the ENT organs. Pneumonia and bronchitis become constant companions of people with a similar genetic anomaly.

Muscle weakness.

The skin is transparent, dry and sluggish, it is pulled back painlessly, sometimes it can form an unnatural fold on the ears or the tip of the nose.

Patients suffer from flat feet, both transverse and longitudinal.

The upper and lower jaws grow slowly and do not correspond in size to the general proportions of a person.

Immunological disorders, allergic reactions.

Dislocations and subluxations of joints.

Myopia, retinal angiopathy, astigmatism, lens subluxation, strabismus and retinal detachment.

Neurotic disorders, expressed in depression, phobias and anorexia nervosa.

Psychological problems of patients suffering from connective tissue dysplasia

Patients with an established diagnosis belong to the group psychological risk. They underestimate own capabilities, have a low level of claims.

Increased anxiety and depression causes high vulnerability of patients. Cosmetic defects in appearance make such people insecure, dissatisfied with life, uninitiative, reproaching themselves for every little thing. Often, patients have suicidal tendencies.

Against the background of these manifestations, patients with dysplasia have a significantly reduced standard of living, social adaptation difficult. Sometimes there is autism.

Causes

Certain gene mutations underlie the occurrence of pathological processes. This disease can be inherited.

Some scientists are also of the opinion that this type of dysplasia may be caused by magnesium deficiency in the body.

Diagnostics

Because illness is the result genetic mutations, then clinical and genealogical research is required for its diagnosis.

But in addition to this, doctors use the following methods to clarify the diagnosis:

Analysis of patient complaints. In most cases, patients report problems with cardiovascular systems Ouch. Mitral valve prolapse is often found, less often aortic aneurysm. Also, patients suffer from abdominal pain, bloating, dysbacteriosis. There are deviations in the respiratory system, which is due to the weak walls of the bronchi and alveoli. Naturally, cosmetic defects, as well as disorders in the functioning of the joints, cannot be left without attention.

Taking an anamnesis, which consists in studying the history of the disease. People suffering from a similar genetic disease are frequent "guests" of cardiologists, orthopedists, ENT doctors, gastroenterologists.

It is necessary to measure the length of all segments of the body.

The so-called “wrist test” is also used, when the patient can completely grasp it with the thumb or little finger.

Joint mobility is assessed using the Beighton criteria. As a rule, patients have their hypermobility.

Taking a daily urine sample in which hydroxyproline and glycosaminoglycans are determined as a result of collagen breakdown.

In general, the diagnosis of the disease is not difficult, and for an experienced doctor, one glance at the patient is enough to understand what his problem is.

It should be understood that this pathology of the connective tissue is not treatable, but using an integrated approach to the treatment of the disease, it is possible to slow down the process of its development and greatly facilitate a person's life.

The main methods of treatment and prevention are as follows:

Selection of specialized sports complexes, physiotherapy.

Compliance with the correct diet.

Taking medication to improve metabolism and stimulate collagen production.

Surgical intervention aimed at correcting the chest and musculoskeletal system.

Therapy without drugs

First of all, it is necessary to provide the patient with psychological support, set him up to resist the disease. It is worth giving him clear recommendations on observing the correct daily routine, determining medical and physical education complexes and the minimum required load. Patients are required to undergo exercise therapy systematically up to several courses per year. Useful, but only in the absence of hypermobility of the joints, stretching, hanging - according to the strict recommendations of the doctor, as well as swimming, playing a variety of sports that are not included in the list of contraindications.

So, non-drug treatment includes:

Therapeutic massage courses.

Performing a set of individually selected exercises.

Sports.

Physiotherapy: wearing a collar, UVI, salt baths, rubdowns and douches.

Psychotherapy with a visit to a psychologist and a psychiatrist, depending on the severity of the patient's psycho-emotional state.

Diet for connective tissue dysplasia

The diet for people with dysplasia is different from regular diets. Patients need to eat a lot, since collagen tends to instantly disintegrate. The diet must include fish and all seafood (in the absence of allergies), meat, legumes.

You can and should use rich meat broths, vegetables and fruits. Be sure to include hard cheeses in the diet of the patient. On the recommendation of a doctor, active biological supplements belonging to the Omega class should be used.

Taking medication

The drugs are taken in courses, depending on the patient's condition, from 1 to 3 times a year. One course lasts approximately 6 to 8 weeks. All drugs must be taken under the strict supervision of a physician, with monitoring of vital signs. It is advisable to change the preparations in order to select the optimal means.

To stimulate the production of collagen, synthetic B vitamins are used, Ascorbic acid, Copper sulfate 1%, Magnesium citrate and other complexes.

For the catabolism of glycosaminoglycans, Chondrotin sulfate, Chondroxide, Rumalon are prescribed.

To stabilize mineral metabolism, Osteogenon, Alfacalcidol, Calcium Upsavit and other agents are used.

To normalize the level of free amino acids in the blood, Glycine, Potassium orotate, Glutamic acid are prescribed.

To normalize the bioenergetic state, Riboxin, Mildronate, Limontar, Lecithin, etc. are prescribed.

Surgical intervention

Indications for surgical intervention are valve prolapse, pronounced vascular pathologies. Also, surgery is necessary for obvious deformities of the chest or spinal column. If it poses a threat to the life of the patient or significantly impairs the quality of his life.

Contraindications

People suffering from this pathology are contraindicated:

Psychological overload and stress.

Difficult working conditions. Professions associated with constant vibration, radiation and high temperatures.

All types of contact sports, weightlifting and isometric training.

If there is hypermobility of the joints, hanging and any stretching of the spine are prohibited.

Living in hot climates.

It is worth noting that if you approach the treatment and prevention of a genetic anomaly in a comprehensive manner, then the result will certainly be positive. In therapy, it is important not only the physical and medical management of the patient, but also the establishment of psychological contact with him. A huge role in the process of curbing the progression of the disease is played by the patient's willingness to strive, albeit not completely, but to recover and improve the quality of his own life.

Connective tissue dysplasia is a group of clinically polymorphic pathological conditions caused by hereditary or congenital defects in collagen synthesis and accompanied by impaired functioning of internal organs and the musculoskeletal system. Most often, connective tissue dysplasia is manifested by a change in body proportions, bone deformities, joint hypermobility, habitual dislocations, hyperelastic skin, valvular heart disease, vascular fragility, muscle weakness. Diagnosis is based on phenotypic features, biochemical parameters, biopsy data. Treatment of connective tissue dysplasia includes exercise therapy, massage, diet, drug therapy.

Connective tissue dysplasia is a concept that combines various diseases caused by hereditary generalized collagenopathy and manifested by a decrease in the strength of the connective tissue of all body systems. The population frequency of connective tissue dysplasia is 7-8%, however, it is assumed that some of its signs and small undifferentiated forms can occur in 60-70% of the population. Connective tissue dysplasia comes to the attention of clinicians working in various medical fields - pediatrics, traumatology and orthopedics, rheumatology, cardiology, ophthalmology, gastroenterology, immunology, pulmonology, urology, etc.

Causes of connective tissue dysplasia

The development of connective tissue dysplasia is based on a defect in the synthesis or structure of collagen, protein-carbohydrate complexes, structural proteins, as well as essential enzymes and cofactors. The direct cause of the pathology of the connective tissue under consideration is various kinds of effects on the fetus, leading to a genetically determined change in the fibrillogenesis of the extracellular matrix. Such mutagenic factors include unfavorable environmental conditions, malnutrition and bad habits of the mother, stress, aggravated pregnancy, etc. Some researchers point to the pathogenetic role of hypomagnesemia in the development of connective tissue dysplasia, based on the detection of magnesium deficiency in the spectral study of hair, blood, oral fluid .

The synthesis of collagen in the body is encoded by more than 40 genes, for which more than 1300 types of mutations have been described. This causes a variety of clinical manifestations of connective tissue dysplasia and complicates their diagnosis.

Classification of connective tissue dysplasia

Connective tissue dysplasia is divided into differentiated and undifferentiated. Differentiated dysplasias include diseases with a certain, established type of inheritance, a clear clinical picture known gene defects and biochemical abnormalities. The most typical representatives of this group of hereditary connective tissue diseases are Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, mucopolysaccharidoses, systemic elastosis, dysplastic scoliosis, Beals syndrome (congenital contracture arachnodactyly), etc. The group of undifferentiated connective tissue dysplasias is various pathologies, whose phenotypic features do not correspond to any of the differentiated diseases.

According to the degree of severity, the following types of connective tissue dysplasia are distinguished: small (in the presence of 3 or more phenotypic signs), isolated (with localization in one organ) and actually hereditary diseases of the connective tissue. Depending on the prevailing dysplastic stigmas, 10 phenotypic variants of connective tissue dysplasia are distinguished:

Marfan-like appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
Marfan-like phenotype (incomplete set of features of Marfan's syndrome).
MASS phenotype (includes involvement of the aorta, mitral valve, skeleton, and skin).
Primary mitral valve prolapse (characterized by echocardiographic signs of mitral prolapse, changes in the skin, skeleton, joints).
Classic Ehlers-like phenotype (incomplete set of features of Ehlers-Danlos syndrome).
Hypermobility Ehlers-like phenotype (characterized by hypermobility of the joints and associated complications - subluxations, dislocations, sprains, flat feet; arthralgias, involvement of bones and skeleton).
Joint hypermobility is benign (includes increased range of motion in the joints without skeletal involvement and arthralgia).
Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, are not enough to diagnose differentiated syndromes).
Increased dysplastic stigmatization with predominant bone-articular and skeletal features.
Increased dysplastic stigmatization with predominant visceral signs (small anomalies of the heart or other internal organs).

Since the description of differentiated forms of connective tissue dysplasia is given in detail in the corresponding independent reviews, in the future we will focus on its undifferentiated variants. In the case when the localization of connective tissue dysplasia is limited to one organ or system, it is isolated. If connective tissue dysplasia manifests itself phenotypically and involves at least one of the internal organs, given state considered as a syndrome of connective tissue dysplasia.

Symptoms of connective tissue dysplasia

External (phenotypic) signs of connective tissue dysplasia are represented by constitutional features, anomalies in the development of bones of the skeleton, skin, etc. Patients with connective tissue dysplasia have an asthenic constitution: tall, narrow shoulders, and underweight. Developmental Disorders axial skeleton can be represented by scoliosis, kyphosis, funnel-shaped or keeled deformities of the chest, juvenile osteochondrosis. Craniocephalic stigmas of connective tissue dysplasia often include dolichocephaly, malocclusion, dental anomalies, gothic palate, and nonunion of the upper lip and palate. The pathology of the osteoarticular system is characterized by an O-shaped or X-shaped deformation limbs, syndactyly, arachnodactyly, joint hypermobility, flat feet, tendency to habitual dislocations and subluxations, bone fractures.

On the part of the skin, there is increased extensibility (hyperelasticity) or, on the contrary, fragility and dryness of the skin. Often, striae appear on it for no apparent reason, dark spots or foci of depigmentation, vascular defects (telangiectasia, hemangiomas). Weakness muscular system with connective tissue dysplasia, it causes a tendency to prolapse and prolapse of internal organs, hernias, and muscular torticollis. Other external signs of connective tissue dysplasia may include microanomalies such as hypo- or hypertelorism, protruding ears, ear asymmetry, low hairline on the forehead and neck, etc.

Visceral lesions occur with the interest of the central nervous system and the autonomic nervous system, various internal organs. Neurological disorders associated with connective tissue dysplasia are characterized by vegetative-vascular dystonia, asthenia, enuresis, chronic migraine, speech impairment, high anxiety and emotional instability. The syndrome of connective tissue dysplasia of the heart may include mitral valve prolapse, open foramen ovale, hypoplasia of the aorta and pulmonary trunk, elongation and excessive mobility of the chordae, aneurysms of the coronary arteries or the interatrial septum. The consequence of the weakness of the walls venous vessels is the development of varicose veins of the lower extremities and pelvis, hemorrhoids, varicocele. Patients with connective tissue dysplasia tend to develop arterial hypotension, arrhythmias, atrioventricular and intraventricular blockades, cardialgia, sudden death.

Cardiac manifestations are often accompanied by bronchopulmonary syndrome, characterized by the presence of cystic hypoplasia of the lungs, bronchiectasis, bullous emphysema, repeated spontaneous pneumothorax. Characterized by damage to the gastrointestinal tract in the form of prolapse of internal organs, diverticula of the esophagus, gastroesophageal reflux, hiatal hernia. Typical manifestations of the pathology of the organ of vision in connective tissue dysplasia are myopia, astigmatism, hyperopia, nystagmus, strabismus, dislocation and subluxation of the lens.

On the part of the urinary system, nephroptosis, urinary incontinence, renal anomalies (hypoplasia, doubling, horseshoe-shaped kidney), etc. can be noted. postpartum bleeding; in men, cryptorchidism is possible. Persons with signs of connective tissue dysplasia are prone to frequent SARS, allergic reactions, hemorrhagic syndrome.

Diagnosis of connective tissue dysplasia

Diseases from the group of connective tissue dysplasia are not always diagnosed correctly and in a timely manner. Often, patients with certain signs of dysplasia are observed by doctors of various specialties: traumatologists, neurologists, cardiologists, pulmonologists, nephrologists, gastroenterologists, ophthalmologists, etc. Recognition of undifferentiated forms of connective tissue dysplasia is complicated by the lack of unified diagnostic algorithms. The identification of a combination of phenotypic and visceral signs has the greatest diagnostic significance. In order to detect the latter, ultrasonic (EchoCG, ultrasound of the kidneys, ultrasound of the abdominal organs), endoscopic (FGDS), electrophysiological (ECG, EEG), radiological (radiography of the lungs, joints, spine, etc.) methods are widely used. Identification of characteristic multiple organ disorders, mainly from the musculoskeletal, nervous and cardiovascular systems, with a high degree of probability indicates the presence of connective tissue dysplasia.

Additionally, biochemical parameters of blood, the hemostasis system, immune status skin biopsy is performed. As a method of screening diagnostics of connective tissue dysplasia, it is proposed to study the papillary pattern of the skin of the anterior abdominal wall: the identification of an unformed type of papillary pattern serves as a marker of dysplastic disorders. Families with cases of connective tissue dysplasia are advised to undergo medical genetic counseling.

Treatment and prognosis of connective tissue dysplasia

There is no specific treatment for connective tissue dysplasia. Patients are advised to adhere to a rational regimen of the day and nutrition, health-improving physical activity. In order to activate compensatory-adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, and osteopathy are prescribed.

In complex medical measures, along with syndromic drug therapy, metabolic drugs (L-carnitine, coenzyme Q10), calcium and magnesium preparations, chondroprotectors, vitamin-mineral complexes, antioxidant and immunomodulatory agents, herbal medicine, psychotherapy are used.

The prognosis of connective tissue dysplasia largely depends on the severity of dysplastic disorders. In patients with isolated forms, quality of life may not be affected. Patients with multiple system lesions have an increased risk of early and severe disability, premature death, the causes of which can be ventricular fibrillation, pulmonary embolism, aortic aneurysm rupture, hemorrhagic stroke, severe internal bleeding, etc.

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Connective tissue dysplasia - symptoms, treatment

5.1.6 Drug therapy

Probably, many have read a short story by D. Grigorovich " Gutta-percha boy or watched the movie of the same name. The tragic story of a little circus performer, described in the work, not only reflected the trends of those times. The writer, perhaps without realizing it, gave a literary description of the painful complex studied by domestic scientists, including T.I. Kadurina.

Not all readers thought about the origin of these unusual qualities in the young hero and people like him.

Nevertheless, the combination of symptoms, the leading of which is hyperflexibility, reflects the inferiority of the connective tissue.

Where does the amazing talent come from and at the same time the problem associated with the development and formation of the child. Unfortunately, not everything is so clear and simple.

What is dysplasia?

The concept itself is translated from Latin as “developmental disorder”. Here we are talking about a violation of the development of the structural components of the connective tissue, leading to multiple changes. First of all, to the symptoms of the musculoskeletal system, where the connective tissue elements are most widely represented.

An important role in the study of connective tissue dysplasia in the post-Soviet space was played by Tamara Kadurina, the author of a monumental and, in fact, the only guide to the problem of its inferiority.

The etiology of connective tissue dysplasia (CTD) of the disease is based on a violation of the synthesis of collagen protein, which acts as a kind of skeleton or matrix for the formation of more highly organized elements. Synthesis of collagen is carried out in the basic connective tissue structures, with each subspecies producing its own type of collagen.

What are connective tissue structures?

It should be mentioned that the connective tissue is the most represented histological structure of our body. Its diverse elements form the basis of cartilage, bone tissue, cells and fibers act as a framework in muscles, blood vessels and the nervous system.

Even the blood, lymph, subcutaneous fat, iris and sclera are all connective tissue originating from the embryonic base called mesenchyme.

It is easy to assume that the violation of the formation of cells - the ancestors of all these, it would seem, different structures during fetal development, will subsequently have clinical manifestations on the part of all systems and organs.

The appearance of specific changes can occur at different periods of the life of the human body.

Classification

Difficulties in diagnosis lie in the variety of clinical manifestations, which are often recorded narrow specialists as separate diagnoses. The very concept of CTD is not a disease as such in the ICD. Rather, it is a group of conditions caused by a violation of the intrauterine formation of tissue elements.

Until now, there have been repeated attempts to generalize the pathology of the joints, accompanied by multiple clinical signs from other systems.

An attempt to present connective tissue dysplasia as a series of congenital diseases with similar features and a number of common features was made by T.I. Kadurina in 2000

Kadurina's classification divides the connective tissue dysplasia syndrome into phenotypes (that is, according to outward signs). This includes:

MASS-phenotype (from English - mitral valve, aorta, skeleton, skin);
marfanoid;

Kadurina's creation of this division is dictated by a large number conditions that do not fit into the diagnoses corresponding to ICD 10.

Syndromic connective tissue dysplasia

Here, by right, we can include the classic syndromes of Marfan and Ehlers-Danlos, which have their place in the ICD.

Marfan syndrome

The most common and widely known of this group is Marfan's syndrome. This is not only a problem for orthopedists. The peculiarities of the clinic often force the child's parents to turn to cardiology. It is to him that the described gutta-perchiness corresponds. Among other things, it is characterized by:

Tall, long limbs, arachnodactyly, scoliosis.
On the part of the organ of vision, retinal detachment, lens subluxation, blue sclera are noted, and the severity of all changes can vary over a wide range.

Girls and boys get sick equally often. Almost 100% of patients have functional and anatomical changes in the heart and they become patients in cardiology.

The most characteristic manifestation will be mitral valve prolapse, mitral regurgitation, aortic dilatation and aneurysm with the possible formation of heart failure.

Eilers-Danlos Syndrome

This is a whole group of hereditary diseases, the main clinical signs of which will also be looseness of the joints. Other, very frequent manifestations include skin vulnerability and the formation of wide atrophic scars due to the extensibility of the covers. Diagnostic features can be:

the presence in humans of subcutaneous connective tissue formations;
pain in mobile joints;
frequent dislocations and subluxations.

Since this is a whole group of diseases that can be inherited, in addition to objective data, the doctor needs to clarify the family history to find out if there were similar cases in the pedigree. Depending on the prevailing and accompanying signs distinguish the classic type:

hypermobile type;
vascular type;
kyphoscoliotic type and a number of others.

Accordingly, in addition to damage to the articular-motor apparatus, there will be phenomena of vascular weakness in the form of aneurysm ruptures, bruising, progressive scoliosis, and the formation of umbilical hernias.

Connective tissue dysplasia of the heart

The main objective clinical manifestation for diagnosing the syndrome of connective tissue dysplasia of the heart is the prolapse (protrusion) of the mitral valve into the ventricular cavity, accompanied by a special systolic murmur during auscultation. Also, in a third of cases, prolapse is accompanied by:

signs of articular hypermobility;
skin manifestations in the form of vulnerability and extensibility on the back and buttocks;
from the side of the eyes are usually present in the form of astigmatism and myopia.

The diagnosis is confirmed by conventional echocardioscopy and analysis of the totality of non-cardiac symptoms. Such children are treated in cardiology.

Other connective tissue dysplasias

It is worth dwelling separately on such a broad concept as the syndrome of undifferentiated connective tissue dysplasia (NDCT)

Here emerges a general set of clinical manifestations that do not fit into any of the described syndromes. External manifestations come to the fore, allowing one to suspect the existence of such problems. It looks like a set of signs of connective tissue damage, of which about 100 are described in the literature.

Careful examination and collection of analysis, especially information about hereditary diseases, are necessary for an accurate diagnosis.

Despite all the variety of these signs, they are united by the fact that the main mechanism of development will be a violation of collagen synthesis, followed by the formation of pathology of the musculoskeletal system, organs of vision, and the heart muscle. In total, more than 10 signs are described, some of them are considered the main ones:

Connective tissue dysplasia | tvoylechebnik.ru

Connective tissue dysplasia

Connective tissue dysplasia (CTD) is a systemic disease in which there is an abnormal development of connective tissue in the body, which leads to various disorders in the body. Connective tissue is found in tendons, cartilage, ligaments, muscles, skin, and blood vessels. Violation of its development begins during embryonic development, i.e. before birth, but the symptoms of the disease appear in children and adolescents, and not in infancy. With age, the symptoms become more pronounced. CTD is caused by mutations in the genes responsible for the production of collagen or other proteins. IN rare cases the cause of dysplasia can be a severe course of pregnancy and diseases of a pregnant woman.

Since connective tissue is present in many organs human body the symptoms can be varied and numerous. In addition, the symptoms of the disease are varying degrees severity and are individual for each patient. Possible disorders in the body:

Excessive joint flexibility, frequent dislocations, flat feet or clubfoot. Scoliosis, hyperkyphosis or hyperlordosis, irregular shape of the chest, osteochondrosis, herniated discs, spondylolisthesis, osteoarthritis.
Problems with the heart and blood vessels. Pulmonary heart, various types of arrhythmias, prolapse of the heart valves, low blood pressure, vascular aneurysms, varicose veins, the appearance of spider veins, hemorrhoids.
Neurological disorders such as panic attacks, fatigue, asthenia, low performance, depression, anorexia nervosa, hypochondria.
Visual disturbances: astigmatism, myopia, nystagmus, strabismus, retinal detachment, dislocation of the lens, retinal angiopathy.
Damage to other organs and systems of the body: problems with the lungs and bronchi, (bronchitis, pneumonia), spontaneous pneumothorax, excessive mobility of the kidneys (nephroptosis) and other internal organs, gastroesophageal reflux disease, hiatal hernia.

Malocclusion, asymmetrical facial features, thin and easily stretchable skin, low body weight, elongated limbs are also possible.

Treatment of connective tissue dysplasia

A combination of several of the above symptoms is important for the diagnosis of dysplasia. In addition, an ECG, duplex scanning of blood vessels, and pressure measurement can be performed. If relatives had similar diseases (for example, vascular or heart problems, joint hypermobility, vision problems), this also speaks in favor of the diagnosis of CTD.

Treatment of CTD is complex and consists not only of drug therapy, but also diet and physiotherapy. Non-drug therapy also includes psychotherapy, exercise therapy and correct mode day.

Drug therapy includes taking drugs that stimulate the formation of collagen, stabilize mineral metabolism and correct the synthesis of glycosaminoglycans. To stimulate the formation of collagen, vitamins (vitamin B1, B2, B6, C, P, E) and substances such as zinc oxide, zinc sulfate, copper sulfate, magnesium citrate, calcitrinin, carnitine chloride, solcoseryl are prescribed. Alfacalcidol, osteogenon, ergocalciferol, oksidevit allow to stabilize the metabolism of minerals. For the synthesis of glycosaminoglycans, chondrokid, rumalon, structum, chondroitin sulfate are prescribed.

It is also required to adjust the level of amino acids in the blood, for this, drugs such as glycine, methionine, glutamic acid, retabolil are used.

Drug therapy is carried out in courses of 2 months several times a year (1-3 times) with breaks of 2-3 months. Treatment should be carried out under the supervision of a physician, since, depending on the condition, the prescribed drugs can be adjusted. In case of heart problems, an ECG and ECHOCG should be done annually.

Between courses of drug treatment, physiotherapy is recommended. An important point in the treatment of dysplasia is regular exercise therapy. A set of exercises should be selected by an exercise therapy doctor. Moderate physical activity (walking, skiing, swimming, badminton) is also useful, but in no case professional sports and professional dancing. They can only aggravate the condition, because they give an excessive load. Power loads are also prohibited - barbell, boxing, lifting weights of more than 3 kg, long hikes. Avoid injuries and infectious diseases, as they can be more severe with dysplasia. With flat feet, you need to go to the orthopedist and pick up special insoles. If hypermobility of the joints is accompanied by pain in the joints, then orthoses (bandages, knee pads, elbow pads) should be worn.

Other recommended procedures are massage courses of the neck-collar region of 15-20 sessions, UV radiation, balneotherapy, coniferous baths. It will not be superfluous to visit a psychotherapist, because of the peculiarities of the emotional state of patients with CTD. It is important to observe the correct daily routine, sleep at least 8 hours, take a shower in the morning and do gymnastics.

The diet for dysplasia includes the use of foods containing a large amount of protein (fish, meat, seafood, nuts, beans, soy) and magnesium. Useful jellied dishes and aspics, broths, hard cheeses. You can use special dietary supplements, amino acid complexes. Magnesium is necessary for the normal structure of connective tissue. An examination by a gastroenterologist is recommended. tr is more pronounced in children, and becomes apparent in children and adolescents in motor axes. chemicals

Patients with dysplasia should choose a job that does not involve emotional stress and physical overload, interaction with chemicals. In cases of spontaneous pneumothorax, it is forbidden to fly an airplane, dive and use the subway, as this can cause repeated cases of pneumothorax. Not recommended for hot climates.