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Treatment of connective tissue weakness in children. Symptoms and treatment of connective tissue dysplasia in children

Connective tissue dysplasia in children is a combination of congenital syndromes, in which, due to a disruption in the formation of collagen fibers, the properties of the connective tissue of the body change. Some diseases associated with impaired development and formation of such tissue in the human body were discovered independently of each other and are of a hereditary nature. Such pathologies are combined into two large groups:

  1. Hereditary genetic syndromes - Marfan, Ehlers-Danlos, etc., which are considered to be differentiated dysplasias.
  2. Diseases whose symptoms do not fit into the typical clinical picture of hereditary diseases, but are associated with connective tissue pathology - undifferentiated dysplasia.

This difference between these diseases is associated, first of all, with the history of their first description and severity characteristic symptoms. Hereditary pathologies connective tissue were discovered and described in children and adults at the end of the 19th century. Due to the fact that the changes in the body during such pathologies were very vivid and visual, the names of such syndromes have been preserved in medicine.

A large number of diseases that had similar features, but did not fall under classic description the course of hereditary syndromes was discovered throughout the 20th century. They were combined according to the main symptom – the sign of “hypermobile joints”. Therefore, they were classified as undifferentiated forms of dysplasia. However, this same symptom is characteristic of a number of rheumatological or autoimmune diseases. Because of this, the doctor must conduct differential diagnosis, because Treatment approaches and outcomes for such diseases vary.

Connective tissue dysplasia syndromes are of great interest for medicine, since they can cause a large number of disorders in almost all organs and tissues of the child.

Connective tissue dysplasia in children occurs due to various mutations in the genes that are responsible for the synthesis and formation of connective tissue. This fabric has a rather complex histological structure and consists of:

  • fibers (collagen and elastic);
  • fibroblasts (cells that synthesize such fibers);
  • intercellular substance formed by glycopeptides and proteoglycans.

It is on the ratio of the number of fibers and intercellular substance, as well as on their spatial organization in tissues, that the physical and sometimes functional properties all histological structures in the body that contain them.

A special role is played by connective tissue dysplasia in pathologies of the cardiovascular system, and in particular the heart. Connective tissue forms its valves, as well as the surface membranes of blood vessels. Therefore, a change in its properties against the background of genetic mutations can lead not only to congenital defects heart, but also sudden cardiac death syndrome in newborns.

In most cases, connective tissue dysplasia, at first glance, does not cause severe symptoms, with the exception of excessive “flexibility” of joints. But with a more detailed examination of the patient (most often this happens during puberty), a number of clinical manifestations characteristic of this pathology.

Depending on the changes that the connective tissue undergoes in the child’s organs, the corresponding pathological processes. Most often, they are either hidden and asymptomatic, or appear as severe congenital disorders of organ development (defects).

Usually, a combination of several changes in the body associated with connective tissue tells the doctor about the presence of dysplasia syndrome.

This suggests that the child has a number of pathological changes. Such a suspicion requires additional and detailed diagnosis, and in some cases, urgent treatment.

Clinical manifestations of connective tissue dysplasia

All symptoms that develop with this genetically determined pathology are usually grouped depending on the organ system affected.

Changes in genes in each individual child are purely individual, so it is difficult to predict the development of which symptoms will be characteristic of him.

From the nervous system, patients may experience:

  1. dysregulation vascular tone(cardiopsychoneurosis);
  2. episodes of panic attacks;
  3. tendency to asthenia.

Such children usually get tired the fastest, their performance and ability to learn quickly decrease for no apparent reason.

The musculoskeletal system, due to the fact that ligaments and tendons cannot provide adequate stability to the joints throughout the body, undergoes the most significant changes. The child may experience:

  • tendency to bend spinal column which is difficult to correct;
  • development of flat feet;
  • asthenic physique;
  • deformation chest;
  • hypermobility of joints in children (excessive mobility - higher than that characteristic of a particular articular joint).

With connective tissue dysplasia, pathologies of the cardiovascular system are most often observed. Such children are prone to development and formation:

  • arterial aneurysms in any part of the body (they are especially dangerous in the brain);
  • varicose veins of the extremities and pelvis.

With connective tissue dysplasia, valve prolapse in the heart is often diagnosed, which leads to symptoms of hemodynamic disturbances in the body. The shape of the heart may change under the influence of both deformation of the chest and spine, and due to changes in the pericardium or due to the presence of valve defects. Such changes in the heart as a result of dysplasia often lead to disturbances in the rhythm of its work - arrhythmias.

Weakness of the bronchial wall, when bronchopulmonary dysplasia is observed in children, leads to:

  1. expansion of their lumen (formation of bronchiectasis);
  2. various forms of pulmonary tissue ventilation impairment (obstructive, restrictive or mixed);
  3. spontaneous pneumothorax (air entering the pleural cavity, which leads to compression of the lung) associated with ruptures of bronchiectasis, for example, during exercise.

Kidney dysplasia in children leads to prolapse of the organ, as well as the development of dilatation of the ureter and renal pelvis, which is accompanied by corresponding symptoms.

Diagnosis and treatment of pathology

Diagnosing undifferentiated connective tissue dysplasias is quite difficult process. This is due to the fact that development clinical symptoms are very diverse, so it is not always possible to reliably place them within one disease. Accurate diagnosis of such a process is based on genetic tests, which define a group of mutant genes. But such research is not always available to patients, and not all medical institutions can conduct such tests. Therefore, the diagnosis of “Connective tissue dysplasia syndrome” in most cases is based on clinical symptoms. Identification of individual morphological changes in tissues and organs is carried out X-ray or using ultrasound and magnetic resonance research methods.

Treatment of connective tissue dysplasia in children is carried out based on the presence of relevant symptoms and various pathological conditions. Unfortunately, since this syndrome is caused precisely by genetic disorders in cells, complete cure child is impossible. Treatment of dysplasia symptoms can be carried out either conservatively, eliminating subjective discomfort, or surgically, eliminating gross violations in the development and formation of organs and blood vessels.

Created: July 08, 2013

Recently, doctors often diagnose children with “dysplastic syndrome” or “connective tissue dysplasia.” What it is?
Connective tissue in human body is the most “diversified”. It includes such dissimilar substances as bone, cartilage, subcutaneous fat, skin, ligaments, etc. Unlike other tissues, connective tissue has structural features: cellular elements located in the interstitial substance, which is represented by fibrous elements and an amorphous substance.

The consistency of the connective tissue depends on the content of the amorphous component. Collagen fibers give the entire fabric strength and allow it to stretch.
Clinical manifestations of connective tissue dysplasia (CTD) are caused by an abnormality of collagen structures, which perform a supporting function and are actively involved in tissue formation, regeneration and aging of connective tissue cells.
Connective tissue dysplasia has a hereditary predisposition. And if you search properly, then in your pedigree there will definitely be relatives suffering varicose veins lower limbs, myopia, flat feet, scoliosis, tendency to bleeding. Some had joint pain in childhood, some constantly had heart murmurs, some were very “flexible”... These manifestations are based on mutations in the genes responsible for the synthesis of collagen, the main protein of connective tissue. Collagen fibers are formed incorrectly and do not withstand proper mechanical load.
Almost all children under 5 years of age have signs of dysplasia - they have delicate, easily stretchable skin, “weak ligaments,” etc. Therefore, it is possible to diagnose DST at this age only indirectly, and also by the presence of external signs of dysplasia in children.
It is necessary to immediately clarify that Connective tissue dysplasia is not a disease, but rather a constitutional feature! There are many such children, but not all of them come to the attention of a pediatrician, orthopedist and other doctors.
Today, many signs of DST have been identified, which can be divided into those detected during an external examination, and internal, that is, signs from the internal organs and the central nervous system.
From external signs the most common are the following: severe hypermobility or looseness of the joints, increased skin extensibility, spinal deformity in the form of scoliosis or kyphosis, flat feet, planovalgus foot deformity, pronounced venous network on the skin (thin, delicate skin), vision pathology, chest deformity (keeled, funnel-shaped or slight depression on the sternum), asymmetry of the shoulder blades, “flaccid” posture, tendency to bruise or nosebleeds, weakness of the abdominal muscles, muscle hypotonia, curvature or asymmetry of the nasal septum, tenderness or velvety skin, “hollow” foot, hernias, abnormal growth teeth or supernumerary teeth.
As a rule, already at the age of 5-7 years, children present many complaints of weakness, malaise, poor tolerance physical activity, loss of appetite, pain in the heart, legs, head, stomach.
Changes in internal organs are formed with age. Characterized by prolapse of internal organs (kidneys, stomach), on the part of the heart - prolapse mitral valve, heart murmurs, from the gastrointestinal tract - biliary dyskinesia, reflux disease, tendency to constipation, varicose veins veins of the lower extremities, etc. Hemorrhagic syndrome manifested by nosebleeds, a tendency to bruise at the slightest injury.
From the nervous system there is a syndrome vegetative dystonia, tendency to fainting, vertebrobasilar insufficiency due to instability of the cervical spine, hyperexcitability syndrome with attention deficit. From the musculoskeletal system: juvenile osteochondrosis of the spine or Schmorl's hernia, juvenile osteoporosis, arthralgia or microtraumatic "transient" arthritis, dysplasia hip joints.
How to help a child?
Daily regime. Night sleep should be at least 8-9 hours; some children are also recommended nap. It is necessary to do morning exercises every day. If there are no restrictions on playing sports, then you need to do them all your life, but In no case is it a professional sport! In children with joint hypermobility involved in professional sports, degenerative-dystrophic changes in cartilage develop very early, in ligamentous apparatus. This is due to constant trauma, micro-effusions, which lead to chronic aseptic inflammation and degenerative processes.
Gives a good effect therapeutic swimming, skiing, cycling, walking up hills and stairs, badminton, wushu gymnastics.
Massotherapy is an important component of the rehabilitation of children with CTD. A massage of the back and cervical-collar area, as well as limbs is performed (course of 15-20 sessions).
In the presence of planovalgus feet, it is indicated wearing arch supports. If a child complains of joint pain, pay attention to the selection rational shoes. For young children, the correct shoes should fit the foot tightly and ankle joint using Velcro, must have a minimum number of internal seams, and be made from natural materials. The backdrop should be high, hard, the heel should be 1-1.5 cm.

It is advisable to do foot exercises every day, foot baths With sea ​​salt 10-15 minutes, massage the feet and legs.
The basic principle of treating connective tissue dysplasia is diet therapy. Nutrition should be complete in proteins, fats, carbohydrates. Recommended food rich in protein(meat, fish, beans, nuts). Cottage cheese and cheese are also needed in the diet. Products must also contain a large number of microelements and vitamins.
Treatment of patients with DST is a difficult but rewarding task if mutual understanding is achieved between parents and doctor. A rational daily routine, proper nutrition, reasonable physical activity and your constant monitoring can quickly get rid of the problems associated with DST. Dysplasia is hereditary and healthy image life is useful for all family members!

The detection rate of connective tissue dysplasia syndrome in children is small, so the topic is poorly covered in information resources. On the other hand, parents need to be aware of this issue, because the diagnosis can be made both in the prenatal and postnatal periods.

With connective tissue dysplasia, there is a high incidence of postural disorders and spinal curvatures

Connective tissue dysplasia - what is it?

Connective tissue makes up the skin, skeleton, adipose, mucous, pigment, reticular tissue is the vast cellular basis of the body, and a disease that affects it can affect the functioning of almost the entire body. The tissue contains collagen, disturbances in the synthesis of which lead to dysplasia.

Connective tissue dysplasia syndrome (CTD) is one anomaly or a combination of them in the development of connective tissue, which is based on a genetic disorder in the ratio of collagen content.

Classification of dysplasia

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Disagreements among scientists do not allow science to identify a general typology. Connective tissue dysplasia is classified according to many criteria. The following classification is preferred by most medical specialists who are directly involved in the treatment of CTD in children, rather than studying it.

Based on heredity, the following types are distinguished:

  1. differentiated dysplasia is a genetically determined disease transmitted along the family line;
  2. undifferentiated dysplasia - the absence of the fact of hereditary transmission of the disease, but the presence of its external and internal signs.

An example of one of the symptoms of DST is shown in the photo.

Hypermobile hand

Causes of pathology

The mechanism of the appearance and development of connective tissue dysplasia in children depends on the following reasons:

  • unconditional (innate) - genetic mutations when forming the composition and amount of collagen in connective tissue;
  • conditional (acquired during life) - poor environment, domestic accidents, poor quality nutrition, etc.

Symptoms of connective tissue dysplasia

General disorders in DST allow us to divide symptoms into certain groups:

  • arrhythmic syndrome: abnormal contractions of the heart or its individual chambers;
  • asthenic syndrome: increased fatigue, inability to withstand normal physical or psycho-emotional stress;
  • bronchopulmonary DST: causeless attacks cough, hard breath, shortness of breath, choking, or a feeling of a foreign object in the throat, stabbing pains in the lungs, accumulation of poorly expectorated sputum;
  • vertebrogenic syndrome: frequent headaches, migraines, dizziness, fainting, intervertebral hernia, pain radiating to the buttock, shoulder or arm, weakness, loss of sensation in the legs, colic in the chest when staying in one position for a long time, etc.;

Connective tissue dysplasia can occur without visible symptoms, and can make itself felt by various disturbances in the functioning of the body
  • visceral syndrome: painful sensations in the kidneys, prolapse of elements of the gastrointestinal tract, genital organs in women;
  • hemorrhagic dysplasia;
  • valvular DST: disturbances in the functioning of the heart valves;
  • cosmetic syndrome: asymmetry of the face, jaws, palate, deformation of the limbs, skin (thin skin, easily injured);
  • violation mental state: disorders, depression, anorexia, increased anxiety, hypochondria;
  • syndrome of neurological disorders: vegetative-vascular dystonia;
  • vascular DST: damage to arteries and veins;
  • syndrome sudden death(more details in the article:);
  • syndrome of abnormalities in the organ of vision: myopia, farsightedness, change in the shape of the lens, corneal detachment;
  • foot pathology syndrome: clubfoot, flatfoot, hollow foot(see also: );
  • syndrome of increased mobility of joints: instability of joints of the limbs, their parts, dislocations, subluxations;
  • thoracodiaphragmatic syndrome: deformation and changes in the chest, diaphragm, spine (see also:);
  • thoradiaphragmatic heart (pulmonary heart);
  • fibrous dysplasia: excessive growth of cells in the walls of blood vessels muscle tissue, carotid arteries or renal.

Treatment methods

Treatment of connective tissue dysplasia, in the direct sense of this concept, does not provide complete healing from genetic pathology, but has a positive impact on the child’s life.

Treatment may include taking medications, proper physical activity and exercises, good nutrition, use of folk remedies.

Drug therapy

Decide to purchase any medications for your child without special instructions medical specialist Not recommended. To treat DST, the doctor prescribes the following drugs to the patient:

  • metabolic - Ascorbic acid, Glycine, Asporcam;
  • vitamins with magnesium - Magnicum, Magne B6, Magvit;
  • antibiotics;
  • medications for vegetative-vascular dystonia - Mexidol, Tenoten (we recommend reading:);
  • - Phenibut, Baby-sed (we recommend reading:);
  • heart medications - Riboxin, Panangin, Cytochrome C;
  • vitamins to improve the formation of collagen fibers - Collagen Ultra, Geladrink Forte.

Therapeutic treatment

Therapeutic approaches to the treatment of connective tissue dysplasia include the following methods:

  • etiotropic therapy - removal of the source of the disease, for example, elimination of a virus or bacteria with medications;
  • pathogenetic - used when an organ is unable to restore a particular function due to limited advances in medicine (for example, taking collagen preparations in the absence of production of interarticular fluid);
  • symptomatic – eliminating a symptom, for example, by introducing sedative to calm nervousness;
  • chemical and biological - treatment with drugs or herbs;
  • physical – physiotherapy, massage, physiotherapy for muscle strengthening.

Traditional methods

No matter how safe it seems folk method treatment, you should consult your doctor about its use for your child. Medicinal herbs can be used for treatment, from which decoctions and tinctures are prepared. For DST associated with the heart, hawthorn will help, and for pulmonary, hemorrhoidal and bacterial problems, sage is suitable. Violations nervous condition eliminated by the use of motherwort, valerian; decreased immunity – consumption of wild rosemary. Medicinal herbs There are many, and choosing a special collection will not be difficult for a parent.


Motherwort tea is used to normalize the nervous system and eliminate headaches

Diet

It is necessary to follow a meal schedule - at the same time, no earlier than half an hour after the child wakes up, and no later than an hour and a half before his sleep. Proper nutrition includes use:

  • collagen-containing products: meat ( greatest content in beef, turkey), salmon fish, seaweed;
  • collagen-synthesizing foods: foods with vitamin C containing soy, cereals, beef and poultry liver, bananas.

Surgical intervention

With DST, it is sometimes impossible to do without correction through surgery. This type treatment is selected for certain indications: serious vascular pathologies, bulging valves of the heart muscle, obvious deformities of the ridge or chest. Surgery is necessary if the condition poses a threat to a person's life and impairs the quality of life.

Connective tissue is an important structural component of every system in the body. Developmental disorders at the cellular and molecular level lead to the formation of certain characteristics and predisposition to many different diseases. Changes may be minimal or limiting functionality, and quite dangerous. Medication and restorative measures for patients with connective tissue dysplasia are aimed at preventing the progression of pathology and reducing existing symptoms.

Basic information

Connective tissue dysplasia (CTD) is understood as a genetically determined change in the development and maturation of its intercellular substance, which consists of specific proteins:

  • collagen;
  • elastin;
  • reticular fibers.

Gene mutation leads to changes in the functioning of enzymes or the cells themselves involved in the synthesis and renewal of intercellular elements of connective tissue.

The morphological basis of DST is a violation of the quantity and/or quality of collagen. This component cellular structure responsible for the elasticity, strength and durability of connective tissue. Collagen, like any protein, is represented by a set of certain amino acids. Gene mutation leads to changes in the structure of molecules and their properties.

Dysplasia is literally translated as a disorder, disorder (“dis”) of education, development (“plaseo”).

In the DST group there are diseases with an established etiology and type of inheritance. Thus, Marfan and Ehlers-Danlos syndromes are identified as separate nosologies. Availability characteristic manifestations in such patients allows us to talk about connective tissue pathology as part of a separate nosological unit. A condition in which the signs of DST do not fit into the picture of specific syndromes is classified as undifferentiated dysplasia.

Hereditary diseases require close attention, since without treatment they form a high risk of shortening life expectancy. Undifferentiated dysplasia has a more favorable course, but often worsens the condition of patients and requires medication or other correction.

Manifestations of DST

Since connective tissue is the most common (occupies 50% of the total body weight), disturbances in its structure lead to changes in the various organs. For of this disease characterized by a progressive character.

As the child with DST grows, more and more may appear. The accumulation of impairments associated with the underlying condition usually ends in adults by age 35.

Manifestations of connective tissue dysplasia are varied and are described in the table:

Region or organ

Symptoms

Skin and muscles

  • Easily stretches by 3 or more centimeters, thin, vulnerable.
  • Excessive or insufficient pigmentation.
  • Wounds heal poorly or with the formation of rough scars.
  • There is weakness or lack of muscle development.
  • Hernias, including internal
  • Tall, unnaturally shaped.
  • Deeply located eye sockets, underdeveloped cheekbones.
  • High palate (“arched”).
  • Malocclusion, tooth growth, crowding

Spine

  • Deformation of posture: scoliosis, kyphosis or a combination of both.
  • Absence of normal physiological curves of the spine

Rib cage

Funnel-shaped or keeled deformities

  • Frequent subluxations and dislocations (especially in the same place).
  • Hypermobility (possibility of excessive hyperextension).
  • The patient is unable to extend (straighten) the arm at the elbow to 170 degrees

Hand and foot

  • Long, spider-like fingers (arachnodactyly).
  • An increase in the number of fingers (polydactyly) or their fusion with each other.
  • On the feet, one toe crosses the other.
  • Flat feet
  • Deterioration of vision (myopia over 3 diopters).
  • Dislocation or subluxation of the lens.
  • Blue sclera.
  • Narrow pupil (miosis) due to underdevelopment of the iris
  • Atypical ear shape.
  • The lobe is absent, split, and underdeveloped.
  • Ears stick out
  • Easily injured with the formation of subcutaneous bruises.
  • Varicose veins of the lower extremities in adolescence and young adulthood.
  • Extension pulmonary artery, aorta in any part of the latter.
  • Aortic dissection (aneurysm), when progressing, presents high danger rupture and death
  • Mitral valve prolapse.
  • Additional chords, their atypical location.
  • Disturbances in the structure of heart valves.
  • Aneurysm in the area of ​​the wall between the chambers of the organ

Bronchopulmonary system

  • Collapse of the trachea and bronchi during exhalation.
  • Formation of small cavities in the lungs.
  • Spontaneous rupture of lung tissue with air entering the pleura

urinary system

  • Prolapse of the kidneys.
  • Reflux of urine in the opposite direction (from Bladder into the ureters)

Gastrointestinal tract

  • Reflux, diaphragmatic hernia.
  • Excessive mobility of areas of the colon.
  • Changes in organ size (dolichosigma, dolichocolon)
  • Impaired formation of platelets and hemoglobin.
  • Pathology of blood clotting

Nervous system

Autonomic dystonia

Dysplasia in childhood

In children at birth, attention is paid to the number of stigmas of dysembryogenesis (specific external signs).

Significant stigmatization indicates the need for close examination of the newborn and further vigilance in terms of the manifestation of gene diseases, CTD in particular.

Example of stigma - isolated ear fossa

Dysplasia in children gradually manifests itself as they grow and develop:

  • In the first year of life, rickets and decreased muscle tone and strength, excessive joint mobility. Clubfoot and hip dysplasia are also a consequence of impaired formation of connective tissue structures.
  • In preschool age (5–6 years), myopia and flat feet often occur.
  • In adolescents, the spine suffers, it is likely to develop, and mitral valve prolapse is detected.

Manifestations of dysplasia can be isolated. The diversity of the clinical picture often makes it difficult to diagnose the undifferentiated syndrome.

Classification

The ICD qualifies only connective tissue dysplasia, which is included in hereditary syndromes. Other conditions are indicated under the headings of immediate diseases. To summarize, we can distinguish the following forms of probable diseases:

Minor signs (1 point each)

Major signs (2 points each))

Severe symptoms (3 points each)

  • Asthenic physique or lack of body weight;
  • visual impairment in people under 40 years of age;
  • absence of striae on the anterior abdominal wall in those who have given birth;
  • decreased muscle tone and low blood pressure;
  • easy formation of hematomas;
  • increased bleeding;
  • postpartum hemorrhage;
  • vegetative-vascular dystonia;
  • disturbance of rhythm and conduction according to ECG;
  • rapid or labor
  • Scoliosis, kyphoscoliosis;
  • flat feet (II–III degrees);
  • excessive skin extensibility;
  • joint hypermobility, tendency to recurrent dislocations and subluxations;
  • allergic predisposition, weak immunity;
  • previous tonsil removal;
  • varicose veins, hemorrhoids;
  • biliary dyskinesia;
  • gastrointestinal motility disorder;
  • hernias in close blood relatives
  • Hernias;
  • organ prolapse;
  • varicose veins and hemorrhoids requiring surgical treatment;
  • dolichosigma (abnormally long sigmoid colon);
  • allergies to many factors and anaphylactic reactions;
  • gastrointestinal motility disorder confirmed by examination

The severity of dysplasia is determined by the sum of the points received:

  • up to 9 - mild or mild;
  • 10–16 - average or moderately expressed;
  • 17 or more - severe or pronounced.

Disability is determined in accordance with the leading underlying disease. Undifferentiated DST can act only as a background condition.

Correction methods

Patients with connective tissue dysplasia undergo basic normalization of lifestyle and nutrition, nutritional support with certain elements and vitamins, and therapy or surgical treatment formed states. Certain diseases (myopia, scoliosis, cardiac dystrophy) are treated together with narrow specialists(ophthalmologist, orthopedist, cardiologist).

People with dysplasia are advised to avoid heavy physical activity and prolonged static stress. Positive Action daily gymnastics and aerobic types of physical education (3 times a week). Swimming and cycling for up to 1 hour have a pronounced effect.

The diet should be rich in protein foods. The menu includes jellied fish and jellied meat. In case of decreased appetite, half an hour before meals, use folk remedies in the form of dandelion infusion or wormwood decoction (1/4 cup each). Additionally, taking vitamins C, E, D, B6 is indicated.

Drug therapy involves the use of magnesium preparations (Magne B6, Magnerot, etc.) or mineral complexes and metabolic agents (Mildronat, Mexicor, Mexidol). Drug treatment is carried out in two or three courses per year for up to 1–2 months, depending on the chosen drug.

There are internal disorders that lead to a whole bunch of diseases in various areas - from joint diseases to intestinal problems, and connective tissue dysplasia is a brilliant example of them. Not all doctors can diagnose it, because in any case it is expressed by its own set of symptoms, and therefore a person can fruitlessly treat himself for years, not suspecting what is happening inside him. Is this diagnosis dangerous and what measures need to be taken?

What is connective tissue dysplasia

In a general sense, the Greek word “dysplasia” denotes a disorder of formation or formation, which can be applied to both tissues and internal organs In total . This problem is invariably congenital, from the fact that it arises in the prenatal period.

If connective tissue dysplasia is mentioned, it means a genetically heterogeneous disease characterized by a disturbance in the formation of connective tissue. The snag is polymorphic in nature, preferably occurring at a young age.

IN official medicine The pathology of connective tissue formation can also be found under the names:

  • hereditary collagenopathy;
  • hypermobility syndrome.

Symptoms

The number of signs of connective tissue disorders is so large that individually a patient can combine them with all sorts of diseases: the pathology is reflected in most of the internal systems - from nervous to mental-vascular, and even expressed in the form of spontaneous weight loss. Often this type of dysplasia is discovered only later external changes, or diagnostic measures taken by a doctor for another purpose.

Among the most brilliant and frequently detected signs of connective tissue disorders are:

  • Autonomic dysfunction, which can manifest itself in the form of panic attacks, tachycardia, fainting, depression, and nervous exhaustion.
  • Problems with the soul valve, including prolapse, heart abnormalities, soul failure, myocardial pathologies.
  • Asthenization is the patient’s inability to subject himself to continuous physical and mental stress, frequent psycho-emotional breakdowns.
  • X-shaped leg deformity.
  • Varicose veins, spider veins.
  • Hypermobility of joints.
  • Hyperventilation syndrome.
  • Frequent bloating caused by digestive disorders, pancreatic dysfunction, problems with bile production.
  • Pain when trying to pull back the skin.
  • Problems with immune system, vision.
  • Mesenchymal dystrophy.
  • Anomalies in the formation of the jaw (including bite).
  • Flat feet, frequent joint dislocations.

Doctors are confident that people who have connective tissue dysplasia have psychological disorders. The mild form is depression, continuous feelings of anxiety, low self-esteem, lack of ambition, indignation at the current state of affairs, reinforced by an unwillingness to change anything. However, even autism can coexist with the 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 brilliant clinical manifestations. In the postnatal period, deficiencies in the formation of connective tissue are also not excluded; therefore, such a diagnosis is rarely made in a newborn. The situation is also complicated by the natural condition of the connective tissue for children under 5 years of age, due to which their skin stretches too strongly, ligaments are easily injured, and joint hypermobility is observed.

In children over 5 years of age, if there is any doubt about dysplasia, you can see:

  • changes in the spine (kyphosis/scoliosis);
  • chest deformities;
  • poor muscle tone;
  • asymmetrical blades;
  • malocclusion;
  • fragility of bone tissue;
  • increased elasticity of the lumbar region.

Causes

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

Classification

Doctors today have not come to a complete conclusion regarding the systematization of connective tissue dysplasia: it can be divided into groups based on processes occurring with collagen, but this approach allows working only with successive dysplasia. Further systematization is considered more multifunctional:

  • A differentiated disorder of connective tissue, which has an alternative name - collagenopathy. The dysplasia is continuous, the signs are clear, diagnosing the disease is not difficult.
  • Undifferentiated connective tissue disorder - this group includes the remaining cases that cannot be classified as differentiated dysplasia. The frequency of its diagnosis is many times higher, and in people of all ages. A person who has been diagnosed with an undifferentiated connective tissue pathology often does not need treatment, but should be monitored by a doctor.

Diagnostics

This type of dysplasia is associated with a mass controversial issues, because experts practice several scientific approaches when it comes to diagnostics. An exceptional point, one that leaves no doubt, is the need to conduct clinical and genealogical research, due to the fact that connective tissue deficiencies are innate. Additionally, to clarify the picture, the doctor will need:

  • systematize patient complaints;
  • measure the torso in sections (for connective tissue dysplasia, their length is required);
  • assess joint mobility;
  • have the patient try to grasp his wrist with his thumb and little finger;
  • perform an echocardiogram.

Analyzes

Laboratory diagnosis of this type of dysplasia consists of analyzing the urine for hydroxyproline and glycosaminoglycans - substances that appear during the breakdown of collagen. Additionally, it is useful to check the blood for frequent mutations in PLOD and general biochemistry (a detailed overview 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 (initial level) is carried out by the pediatrician, since there is no doctor who works extraordinarily with dysplasia. Later, the scheme is identical 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 are no methods to get rid of this diagnosis, from the fact that dysplasia of this type affects metamorphoses in genes, however comprehensive measures can alleviate the patient’s condition if he suffers from clinical manifestations of connective tissue pathology. The preferred scheme for preventing exacerbation is:

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

TO surgical intervention for this type of dysplasia, it is recommended to resort only in the case of chest deformation, serious disorders of the spine (exclusively the sacral, lumbar and cervical regions). Connective tissue dysplasia syndrome in children requires additional normalization of the daily routine, selecting continuous physical activity - swimming, cycling, skiing. However, a child with such dysplasia should not be enrolled in highly professional sports.

Without the use of drugs

Doctors advise starting treatment by eliminating high physical activity and hard work, including mental work. The patient needs to undergo a course of exercise therapy for a year, most likely receiving a lesson plan from an expert and performing the same actions independently at home. In addition, you will need to visit the clinic to undergo a set of physical procedures: ultraviolet irradiation, rubdowns, electrophoresis. It is possible that the purpose of the corset is to support 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.
  • Wearing an arch support if a hallux valgus is diagnosed.

Diet

Experts recommend that the emphasis in the diet of a patient who has been diagnosed with connective tissue pathology be on protein foods, but this does not imply the complete exclusion of carbohydrates. The daily menu for dysplasia must certainly consist of lean fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables and unsweetened fruits. You should include small amounts of nuts in your daily diet. If necessary, can be assigned vitamin complex, exclusively for children.

Taking medications

Drink medications It should be under the supervision of a doctor, since there is no multifunctional tablet for dysplasia and it is impossible to predict the reaction of a certain organism to even the most harmless medicine. Therapy to improve the condition of connective tissue with dysplasia may include:

  • Substances that stimulate natural collagen production - ascorbic acid, B vitamins and sources of magnesium.
  • Medicines that normalize the level of free amino acids in the blood - Glutamic acid, Glycine.
  • Means that help mineral metabolism.
  • Preparations for the catabolism of glycosaminoglycans, preferably chondroitin sulfate.

Surgical intervention

Due to the fact that this connective tissue pathology is not considered a disease, the doctor will recommend surgery if the patient suffers from deformation of the musculoskeletal system, or dysplasia can lead to fatal outcome due to problems with blood vessels. In children, surgical tying is practiced less frequently than in adults; doctors try to make do with manual therapy.