Connective tissue dysplasia. Undifferentiated connective tissue dysplasia

Connective tissue dysplasia is another name according to ICD 10 for the state of congenital inferiority of the connective tissue component of the human body. In case of violation, there is a deviation in the structure, growth at the stages of maturation and differentiation of the connective tissue, in the prenatal period and in the first months after birth in children. The causes of developmental anomalies are genetic disorders affecting the fibrogenesis of extracellular structures. As a result of the deviation, there is an imbalance in the homeostasis of organs and systems, a violation of their structure and functions with constant progression in children and adults.

Elements of the connective tissue structure are part of human organs and skin. The fabric is loose or reveals a dense structure. It is found in the skin, musculoskeletal system, blood vessels, blood, hollow organs and mesenchymal structures. The main function in the structure of connective tissue is performed by collagen. Provides preservation of the volume and shape of the body. Elastin is responsible for the flexibility and relaxation of the tissue elements of the skin.

Connective tissue dysplasia is determined by genetically determined transformations in the form of mutations in the genes responsible for its production and maturation, and is defined as a hereditary pathology. Mutations can be of a diverse nature, affecting any genes. Subsequently, there are deviations in the formation of collagen, elastin. As a result, organs and tissues cannot cope with the proposed dynamic and static load.

Differentiated connective tissue dysplasia. The type is characterized by the severity of clinical manifestations and well-studied mutations of well-defined sections of the gene chain. An alternative name for the ICD 10 group is collagenopathy. Include a number of hereditary disorders of the formation and maturation of collagen.
The undifferentiated form in children is established when it is not possible to establish analogies with any of the known genetic disorders, there is not a single sign of a differentiated disorder.

The undifferentiated form is more common. Able to hit people at any age, even children.

The main complaints of patients with dysplasia

Such sick people, children with connective tissue pathology are easy to recognize on the street. Sick people suffering from connective tissue dysplasia show two main characteristic types of appearance. One is represented by people of high stature with lowered shoulders, protruding shoulder blades sticking back, the other type of appearance is represented by short people of slender build.

Complaints of patients are diverse, carry little information to verify the diagnosis.

General weakness, malaise and fatigue, muscle lethargy.
Pain in the head and abdomen.
Digestive disorders - bloating and constipation, poor appetite.
Decreased blood pressure.
Respiratory disorders.

Reliable consider the symptoms determined by an objective assessment of the patient's condition:

Asthenic constitution with deficiency of body weight, asthenic syndrome.
Disorders of the structure and functions of the spine, expressed in scoliosis, chest deformities, hyper- and hypolordosis or kyphosis.
Lengthening of the limbs, proportional changes in the structure of the body.
Increased joint mobility, allowing more than normal flexion and extension.
Valgus deformity of the legs, symptoms of flat feet.
Eye changes - myopia, violations of the structure of the retina.
On the part of the vessels, varicose veins occur, increased permeability of the walls of blood vessels for blood elements.

The condition of the skin and cartilaginous elements undergo changes. The skin becomes thinner and looks sluggish, prone to excessive extensibility. Blood vessels shine through it. The skin can be painlessly pulled into a bundle on the frontal region, the back surface of the hands, subclavian areas. It is easy to form a fold on the auricles or nose, which does not happen in a healthy person.

valvular syndrome

The syndrome is isolated in nature, characterized by the presence of prolapse of the heart valves and their myxomatous degeneration.

More often it is possible to detect symptoms of mitral valve prolapse, other valves are affected somewhat less frequently, which confirms additional diagnostics. Developmental deviations are possible: dilatational changes in the roots of the thoracic aorta and pulmonary artery, sinus aneurysmal expansions. Violations of the structure are accompanied by the phenomena of reverse blood reflux, which leaves an imprint on the general hemodynamic parameters of the patient. It is suggested that the basis of the causes of the described syndrome in children is the deficiency of magnesium ions, which is confirmed by biochemical diagnostics.

The formation of a disorder in the form of a valvular syndrome begins in children of 5 years. The first auscultatory signs are determined somewhat later. Electrocardiography data are not always indicative, they depend on the age and progression of the disease, so it is more often possible to detect them during repeated visits to the doctor.

Thoracodiaphragmatic changes

The signs that characterize the syndrome are easily determined by visual examination:

The chest has an asthenic shape, it is keeled or takes the form of a funnel.
The spine exhibits all sorts of deformities.
The level of standing and the amount of movement of the diaphragm is changed compared to normal.

In most cases, in a patient with connective tissue pathology, it is possible to meet a chest that has a funnel-shaped appearance, a little less often a keeled one.

The beginning of the formation and progression of thoracophrenic syndrome occurs in childhood, by the beginning of puberty it already has formed clinical signs.

This pathology entails signs of impaired respiratory functions, limited lung capacity, disruption of the normal structure and functions of the bronchial tree and trachea, violation of the position of the heart in the mediastinum, and deformation of large vessels. Changes that are quantitative or qualitative in nature affect the degree of intensity of all objective manifestations and the functioning of the respiratory and heart organs.

Violation of the structure of the shape of the costal arch of the sternum leads to a limitation in the volume of the chest, an increase in air pressure in it, disrupts the normal flow of blood through the vessels, and causes heart rhythm disorders.

Vascular pathological conditions

Vascular syndrome consists in the defeat of the arterial bed. The walls of arteries of different calibers expand and aneurysms are formed, increased tortuosity of blood vessels develops, varicose lesions of the venous network of the lower extremities, small pelvis, telangiectasias develop.

Vascular disorders entail an increase in the tone in the lumen of the vessels, a decrease in the speed and volume of filling the vessels with blood, a decrease in the tone in the peripheral venous network, and are characterized by congestion in the peripheral vessels of the extremities.

The manifestation of the state when the vascular syndrome develops occurs in adolescence or adolescence, gradually increasing.

Respiratory system disorders

The main signs are violations of the normal movements of the villi of the epithelium of the bronchial tree and trachea, expansion and thinning of the bronchial lumen, violations of the ventilation abilities of the lungs. In severe cases, spontaneous pneumothorax develops.

The development of a complication called bronchopulmonary syndrome is associated with a violation of the formation of partitions between the alveoli, insufficient development of elastin elements and smooth muscle structure. This leads to increased extensibility of small alveoli and bronchioles, a decrease in the elasticity of all structural elements of the lung tissue. Special cases of damage to individual components of the respiratory system that affect children today are regarded by clinicians as congenital malformations.

The intensity of development of changes in functional abilities depends on the severity of morphological changes. As a rule, the vital capacity of the lungs decreases, although the residual volume in the lungs should not necessarily change. A number of patients observed phenomena of obstruction of the bronchi, small bronchioles. The phenomenon of increased reactivity of the bronchial tree is noted, which has not yet found an intelligible explanation.

People whose connective tissue dysplasia affects the respiratory system are often prone to comorbidities such as pulmonary tuberculosis.

Immunological disorders

They manifest themselves according to the principle of a decrease in the immune response and a number of autoimmune disorders and allergic reactions of varying degrees of development.

With connective tissue dysplasia, a person develops an activation or a decrease in the activity of immune response mechanisms that are responsible for maintaining homeostasis in the body. The ability to respond normally to the penetration of foreign agents is impaired. This leads to the frequent development of infectious complications of various origins, the respiratory system is especially widely affected. Immunological deviations are expressed in quantitative changes in the amount of immunoglobulins in the blood plasma.

Other syndromes characteristic of connective tissue dysplasia

Visceral syndrome is expressed in ectopia and dystopia of internal organs, dyskinesias, hernias.
Visual disorders are myopia, astigmatic disorders, strabismus, disturbances of the normal activity of the retina up to complete detachment, strabismus and subluxation of the lens.
Mesenchymal dysplasia affects the blood system and is expressed in hemoglobinopathies, disorders: hemorrhagic syndrome, thrombocytopathy.
Pathology of the feet is the development of clubfoot or flat feet. The development of pathology of the foot and lower extremities leads to persistent movement disorders and social exclusion.
Joint hypermobility is often detected in children at an early age. After 20 years, the incidence of pathology decreases.

Diagnostic criteria and principles of therapy

Connective tissue dysplasia is not difficult, diagnosis is easy even in children. After a clinical examination, a genetic analysis and a number of biochemical studies are required.

Biochemical diagnostics of blood reveals an increase in glycosaminoglycans, which can increase in the urine. Due to the complexity and high cost, the study is not carried out too often.

Therapeutic measures include components:

Medications that stimulate the synthesis and maturation of collagen - preparations of ascorbic acid, chondroitin, glucosamine.
Non-drug means - massage, gymnastics, physiotherapy. Acupuncture.
A balanced diet rich in collagen and vitamins.

The term connective tissue dysplasia in children refers to a whole group of pathological conditions characterized by impaired formation and development of connective tissue. The basis of connective tissue dysplasia (CTD) is a violation of the synthesis of collagen - a protein that is a kind of matrix for the formation of more complex structures.

This situation leads to the fact that the connective tissue formed in this way is not able to withstand the necessary mechanical load. Statistics show an increase in patients with CTD. According to some reports, from 30 to 50% of schoolchildren suffer from this pathology.

The reasons

Gene mutations are the causes of disruption in the formation and development of connective tissue. The fact is that connective tissue is present in all organs and tissues of our body, so genetic damage can occur anywhere. This determines the great variety and severity of clinical manifestations.

Classification

All manifestations of this pathology can be divided into 2 large groups:

Differentiated dysplasia. Gene defects in differentiated dysplasia are well studied, and clinical symptoms are pronounced. This group includes Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta.
undifferentiated dysplasia. This diagnosis is made if the signs of pathology do not fit into the framework of differentiated syndromes.

Marfan syndrome

It is the most common of differentiated dysplasias. The cause of the pathology is a defect in the FBN1 gene responsible for the synthesis of fibrillin. As a result, connective tissue fibers lose their elasticity and strength. The severity of Marfan's syndrome can vary greatly. From mild (outwardly almost indistinguishable from ordinary people) to severe, leading to death from heart failure in the first year of life.

These people are characterized by:

High growth.
Long limbs.
Long, thin, hyperactive fingers.
Visual disturbances (subluxation of the lens, blue sclera, myopia, retinal detachment).
Cardiovascular disorders. Most often there is mitral valve prolapse, congenital heart defects, rhythm disturbances, aortic aneurysm.

Arachnodactyly (spider fingers) in Marfan syndrome

Such patients are under the control of several specialists - a cardiologist, an ophthalmologist, a therapist, an orthopedist. They are at high risk of sudden death. Life expectancy depends on the severity of disorders, primarily in the cardiovascular system. So, 90% of patients do not live up to the age of 45 years.

Ehlers-Danlos syndrome (hyperelastic skin syndrome)

This is a group of hereditary diseases (10 types of this syndrome are distinguished), characterized by impaired collagen synthesis. Since collagen is present in all organs and tissues, disorders in this pathology are generalized. They capture the cardiovascular, visual, respiratory system. The leading symptom of the Ehlers-Danlos syndrome is skin manifestations.

The skin of such children is tender, velvety and poorly fixed to the underlying tissues, easily folds. It is wrinkled on the feet and soles. Very vulnerable, especially after 2 years. The slightest traumatization of the skin leads to the appearance of wounds. Such wounds heal for a very long time, with the formation of scars and pseudotumors.

Osteogenesis imperfecta

In this case, a hereditary mutation leads to a violation of the formation of bone tissue (osteogenesis). Bones in this pathology have a porous structure, their mineralization is disturbed. As a result, patients have multiple fractures, even with minimal mechanical impact, and in some cases spontaneous. Such children are called "crystal".

The prognosis of the disease depends on the type of osteogenesis disorders. There are 4 types in total. The most severe are types 2 and 3 of genetic anomalies. The life expectancy of children with osteogenesis imperfecta usually does not exceed a few years. Death occurs from the consequences of multiple fractures and septic (infectious) complications.

Undifferentiated dysplasia

Undifferentiated connective tissue dysplasia in children is a connective tissue pathology in which external manifestations and clinical symptoms indicate the presence of a connective tissue defect, but do not fit into any of the currently known genetically determined syndromes (Marfan syndrome, Ehlers-Danlos syndrome). , osteogenesis imperfecta syndrome, etc.).

A child with undifferentiated CTD may present a lot of non-specific complaints: headaches, rapid general fatigue, abdominal pain, unstable stool (alternating constipation and diarrhea), bloating, poor vision. Children and especially adolescents with this pathology are prone to anxiety, depression and hypochondria. In adult life, this can lead to a decrease in social adaptation and restriction of social activity.

Children suffering from CTD often develop infectious diseases of the respiratory tract - from the usual acute respiratory infections to pneumonia. Therefore, due to the absence of characteristic complaints, it is important to carefully pay attention to the external symptoms of connective tissue dysplasia in a child.

From the musculoskeletal system:

Joint hypermobility.
Scoliosis.
Flat feet.
Chest deformities.
Disproportionately long arms and legs.
Various malocclusions.

From the side of the skin:

Hyperelasticity.
thinness.
Early formation of wrinkles.
Expressed venous network.
Tendency to injury.

Stretch marks in the back area are one of the most common skin signs of dysplasia.

From the side of the cardiovascular system: mitral valve prolapse, blockade of the right leg of the His bundle, venous insufficiency, varicose veins. On the part of the organs of vision: angiopathy of the retina, blue sclera, myopia. The so-called small anomalies of the skeleton: sandal gap on the foot, adherent earlobes, diastema (gap between the front teeth).

Diagnosis of connective tissue dysplasia

The syndrome of differentiated connective tissue dysplasia in children usually does not cause great difficulties in diagnosis due to the brightness of the clinical picture and the presence of a family predisposition. To confirm the diagnosis, a genetic examination is carried out. Undifferentiated CTD is most often not diagnosed immediately.

Usually, children are observed for a long time by doctors of various specialties: cardiologists, ophthalmologists, gastroenterologists, therapists. In addition, there are no uniform examination algorithms for this pathology. Usually, the diagnosis is made on the basis of a combination of external signs, clinical manifestations and instrumental diagnostic data. The most indicative are:

Echocardiography.
Ultrasound of the abdominal organs and kidneys.
Electrocardiogram.
Electroencephalogram.
X-ray of the joints and spine.

Additionally, a skin biopsy, laboratory blood tests can be performed. If there were cases of connective tissue dysplasia in the family, especially differentiated ones, medical genetic counseling is recommended.

Treatment

There is no specific treatment, as with any genetic pathology. The main role here is played by the observance of an appropriate lifestyle, timely access to a doctor, correction of emerging disorders, and preventive measures.

Nutrition and mode

In children with CTD, the role of a balanced diet is very important. In the daily diet, there must be enough protein (meat, fish, legumes), foods containing calcium (milk, cottage cheese, cheese), vegetables and fruits. It is better to exclude fast carbohydrates (white bread, confectionery) and fast food from nutrition. The daily routine is very important for children with connective tissue dysplasia. Must be:

Complete sleep.
Walks in the fresh air, active games, swimming.
hardening.
A complex of physiotherapy exercises, which must be done daily.

A set of exercises for a child is selected individually by a specialist in exercise therapy

An annual complete examination is necessary to timely detect the progression of the disease and comorbidities. In adolescence, due to severe psycho-emotional instability, most children with CTD often need the help of a psychologist. Children with connective tissue dysplasia do not want to live in hot climates.

Physiotherapy

It is recommended to regularly undergo massage sessions and spa treatment. Physiotherapy shows ultraviolet irradiation, acupuncture, salt, iodine-bromine, hydrogen sulfide baths, mud therapy. According to indications, children are prescribed to wear orthopedic shoes, special fixators and bandages.

Medical therapy

Symptomatic therapy and metabolic drugs that improve metabolism are usually used. Such as L-carnitine, chondroprotectors (glucosamine in combination with chondroitin), calcium and magnesium preparations, vitamin complexes, omega-3.

Surgery

Surgical intervention in a child may be required in case of severe joint dysplasia - dislocation or fracture. Also, surgical intervention is performed to correct malformations of the heart and blood vessels. The operation is done according to strict indications and is a means of life for the child and the prevention of complications.

Forecast

The prognosis depends on the severity of dysplasia. Timely identified one or another syndrome of connective tissue dysplasia with an integrated approach in most cases gives a favorable prognosis in children with isolated forms. If all the recommendations of the doctor are followed, the quality of life may not be violated. Patients with severe dysplasia and generalized forms have a high risk of severe complications, disability and early death.

Among pediatric patients, children with a little-studied disease - connective tissue dysplasia - are increasingly appearing. According to some reports, from 30 to 50% of schoolchildren suffer from this symptom, and their number is increasing. What is this syndrome and how to treat it, we will consider in our article.

What is it

Most doctors consider connective tissue dysplasia not an independent disease, but rather a combination of symptoms and problems that arose even during the embryonic development of a child. How to treat this syndrome - further on the article.

Connective tissue is present in many organs of the human body. Its content is especially high in the musculoskeletal system, where it ensures the normal functioning of the joints. The connective tissue consists of fibers, cells and intercellular substance. The tissue itself is loose or dense, depending on the organs. The most important role in the connective tissue is played by collagen (responsible for maintaining shape) and elastin (responsible for contraction and relaxation).

It has been established that connective tissue dysplasia appears when the genes responsible for fiber synthesis are mutated. That is, this disease is genetically predetermined. Mutations are different and affect different genes. As a result, elastin and collagen chains are formed incorrectly, and the connective tissue does not withstand normal mechanical stress. Collagen and elastin chains can be either too long (insertion) or too short (deletion). At the same time, due to mutations, they may contain the wrong amino acid.

Usually in the first generations, the number of defective connective fibers is small. The clinical picture may not even appear. However, hereditary pathologies accumulate, family members may show some signs of dysplasia. When there are few of them, they are hardly noticeable. However, the symptoms of the disease are not only a characteristic appearance, but also serious changes in organs and the musculoskeletal system.

First of all, the changes affect the bone tissue. Children may have too long fingers, elongated limbs, scoliosis, flat feet, and an improperly developed chest. The skin also changes, becoming too elastic, thin, which entails high trauma. Muscles become thinner, not only large, but also small (in the cardiac and oculomotor systems).

The joints of children with connective tissue dysplasia are abnormally mobile due to weak ligaments and are prone to dislocation. The organs of vision also change (myopia, flat cornea, dislocation of the lens, elongated eyeball). The cardiovascular system suffers from the expansion of the arteries and aorta, changes in the heart valves. Vessels tend to expand, and varicose veins are often noted on the legs. The disease affects the kidneys (nephroptosis) and the bronchial tree.

Congenital pathologies of the connective tissue are: differentiated and undifferentiated.

Differentiated

Dysplasia of a differentiated character is manifested due to a certain type of inheritance. This syndrome has a characteristic and clear clinical picture. Genetic and biochemical defects have been studied quite well.

Most often, children with differentiated dysplasia suffer from flaccid skin syndrome, osteogenesis imperfecta (aka “crystal man” disease), Marfan, Alport, Sjogren, Ehlers-Danlos syndrome (10 types). There is also a bullous form of epidermolysis, hypermobility of the joints. These diseases are referred to as collagenopathies - genetic defects of collagen.

Differentiated dysplasia is quite rare and is quickly recognized by geneticists. Pathology is concentrated in a single organ or in several. The syndrome is quite dangerous, since the internal organs can change irreversibly. In severe cases, death is also possible. Fortunately, there are few children with a differentiated type of dysplasia, the pathology is localized typically (in the skin and joints, spine, aorta).

Video "Diagnosis of dysplasia"

undifferentiated

Usually, children have an undifferentiated form of dysplasia, which should be discussed in detail. Such a diagnosis is made in the case when the signs of the disease cannot be attributed to localized diseases and the connective tissue of the whole body has disorders. According to some reports, it is detected in children and adolescents in 80% of cases.

There are many symptoms of the disease. Patients may complain about:

weakness, drowsiness, poor appetite;
migraine, abdominal pain and bloating, constipation;
muscle hypotension;
arterial hypotension;
frequent pneumonia and chronic bronchitis;
inability to lift weights.

However, based on complaints, it is difficult to recognize the syndrome, since similar problems can occur with many other acquired diseases. It is important to note the characteristic symptoms:

asthenic physique;
chest deformities;
hyperkyphosis, hyperlordosis, scoliosis, "straight back";
hypermobility of the joints (for example, the ability to re-extension two knee or elbow joints, bend the little finger 90 degrees);
elongated feet, hands or limbs;
changes in the skin and soft tissues: too elastic and thin skin with a visible vascular network;
flat feet;
eye pathologies: blue sclera, myopia, retinal angiopathy;
early varicose veins, fragile and permeable vessels;
slow jaw growth.

If children have at least 2-3 symptoms, it is necessary to go to the doctor to confirm or refute connective tissue dysplasia. Diagnosis is simple, although it includes clinical and genealogical studies. In addition to them, the doctor analyzes the child's complaints, looks at the medical history (children with dysplasia syndrome are frequent patients of ENT doctors, cardiologists, orthopedists, gastroenterologists).

Be sure to measure the length of the segments of the body. A “wrist test” is done when the child, with the help of the little finger or thumb, is able to completely wrap around it. The doctor evaluates joint mobility on the Beighton scale to confirm hypermobility. A urine test is also taken to detect glycosaminoglycans and hydroxyproline (collagen breakdown products). As a rule, the entire above diagnostic cycle is not carried out. Often, it is enough for experienced doctors to examine the child to understand the problem.

How to treat

It is important for parents to understand that connective tissue dysplasia is a genetic feature and cannot be fully treated. However, it is possible to slow down the development of the syndrome, and even stop it, if complex therapy is started in a timely manner.

The main methods of treatment and prevention:

maintaining a proper diet;
special gymnastic complexes, physiotherapy;
the use of medications;
surgical treatment to correct the musculoskeletal system and chest.

It is important to provide psychological support to the child. It often turns out that having learned the diagnosis, parents sigh with relief. After all, numerous trips to the doctor due to various diseases and symptoms occurred as a result of just one disease, and not the most serious one.

Non-drug treatment consists of:

therapeutic massage;

sports activities (badminton, table tennis, swimming);

individual exercises;

physiotherapy (salt baths, dousing, UVI).

The diet for dysplasia syndrome is different from the usual one. Children need to eat tightly, because collagen quickly breaks down. It is important in the diet to pay attention to fish, meat and seafood, legumes. Fatty broths, fruits and vegetables, a large amount of cheese are useful. In consultation with the doctor, you can use bioadditives.

Of the medicines, the doctor chooses the best set for the child. Medications are taken in courses. The duration of one course of treatment is about 2 months. Use:

rumalon, chondrotin sulfate (for the catabolism of glycosaminoglycans);
ascorbic acid, magnesium citrate (to stimulate collagen production);
osteogenon, alfacalcidol (to improve mineral metabolism);
glycine, glutamic acid (to normalize the amino acid level);
lecithin, riboxin (to improve the bioenergetic state of the child).

Indications for surgery are obvious vascular pathologies, severe deformities of the chest or spine. Surgery is used if problems due to the syndrome threaten the child's life or severely interfere with life.

In conclusion, we note that children are contraindicated:

heavy or contact sports;
psychological stress;
stretching of the spine.

Video "Immature connective tissue in children"

In the video, you will learn why such a thing as connective tissue dysplasia appears in preschool and adolescence children.

Connective tissue dysplasia is a disease that affects the musculoskeletal system and internal organs. It occurs with equal frequency in adults and children. The clinical manifestations of this pathology are accompanied by symptoms that are characteristic of a number of other common diseases, which, when making a diagnosis, misleads even experienced specialists.

The treatment of connective tissue dysplasia should be started as soon as possible after the detection of pathology. This is the only way to avoid disability and live a full life, which is impossible for every tenth patient with an advanced form of this disease.

What provokes pathology

When faced with this diagnosis for the first time, most patients do not understand what it is about. In fact, connective tissue dysplasia is a disease that manifests itself with multiple symptoms and is provoked by a number of causes. In the predominant number of cases, the disease is transmitted genetically from relatives in a direct ascending line, arising due to failures in the natural processes of collagen synthesis. With dysplasia, almost all organs and the musculoskeletal system are affected.

Violations of the development of structural elements of the connective tissue inevitably lead to numerous changes. First, the symptoms appear from the side of the musculoskeletal system - the elements of the connective tissue are most widely represented there. As you know, in the structure of this material there are fibers, cells, and its density depends on their ratio. Throughout the body, connective tissue is loose, hard and elastic. In the formation of skin, bones, cartilage, and vessel walls, the main role belongs to collagen fibers, which predominate in the connective tissue and maintain its shape. The importance of elastin cannot be neglected - this substance provides contraction and relaxation of muscles.

Connective tissue dysplasia develops due to mutation of genes responsible for natural synthesis processes. Modifications can be very diverse, affecting any links of the DNA chain. As a result, the connective tissue structure, which consists mainly of elastin and collagen, is formed incorrectly, and structures formed with violations cannot withstand even average mechanical loads, stretch and weaken.

Differentiated varieties of the disease

Pathologies affecting the connective tissue of internal organs, joints and bones are conditionally divided into differentiated and undifferentiated forms of dysplasia. In the first case, an ailment is implied, which has characteristic symptoms and is manifested by well-studied gene or biochemical defects. Physicians have designated diseases of this kind with the general term "collagenopathy". This category includes the following pathological conditions:

Marfan syndrome. Patients with this disease are usually tall, have long arms and legs, and a curved spine. Violations can also occur with the organs of vision, up to retinal detachment and lens subluxation. In children, connective tissue dysplasia provokes the development of heart failure against the background of mitral valve prolapse.
Flaccid skin syndrome. This disease is less common than the previous one. Its specificity lies in the excessive stretching of the epidermis. In this type of collagenopathy, it is the elastin fibers that are affected. Pathology, as a rule, is hereditary.
Eilers-Danlo syndrome. A complex genetic disease, manifested by severe joint laxity. Such connective tissue dysplasia in adults leads to increased skin vulnerability and the formation of atrophic scars.
Imperfect osteogenesis. This is a whole complex of genetically determined pathologies that develop due to impaired bone formation. Due to the affected dysplasia, its density sharply decreases, which inevitably leads to fractures of the limbs, spine and joints, and in childhood - to slow growth, curvature of posture, and characteristic disabling deformities. Often, with damage to the bone tissue, the patient has problems in the work of the central nervous system, cardiovascular, excretory and respiratory systems.

undifferentiated form

To diagnose this type of dysplasia, it is sufficient that none of the patient's symptoms and complaints relate to differentiated collagenopathies. In children, connective tissue dysplasia of this type occurs in 80% of cases. In the risk group for the disease, in addition to babies, are young people under the age of 35 years.

What changes occur in the body

Connective tissue dysplasia can be suspected for a number of reasons. Patients with this diagnosis notice increased joint mobility and elasticity of the skin - this is the main symptom of the disease, which is characteristic of any form of collagenopathy and the undifferentiated form of the disease. In addition to these manifestations, the clinical picture can be supplemented by other disorders of the connective tissue:

skeletal deformities;
malocclusion;
flat feet;
vascular network.

More rare symptoms include abnormalities in the structure of the auricles, brittle teeth, and hernia formation. In a severe course of the disease, changes develop in the tissues of the internal organs. Dysplasia of the connective tissue of the heart, respiratory organs and abdominal cavity in most cases is preceded by the development of autonomic dystonia. Most often, dysfunction of the nervous autonomic system is observed at an early age.

Signs of connective tissue dysplasia become more pronounced gradually. At birth, children may have no phenotypic characteristics at all. However, this applies mainly to undifferentiated connective tissue dysplasia. With age, the disease becomes more active, and the rate of its progression depends largely on the ecological situation in the region of residence, the quality of nutrition, chronic illnesses, stress, and the degree of immune protection.

Symptoms

Dysplastic changes occurring in the connective tissues of the body have practically no obvious external signs. In many ways, the clinical manifestations are similar to the symptoms of various diseases encountered in pediatrics, gastroenterology, orthopedics, ophthalmology, rheumatology, pulmonology. Visually, a person with dysplasia may seem completely healthy, but at the same time, his appearance differs in a number of specific features. Conventionally, people with such a disease can be divided into two types: the first is tall, stooped, thin with protruding shoulder blades and collarbones, and the second is weak, fragile, small in stature.

Among the complaints that patients describe to the doctor, it is worth noting:

general weakness and malaise;
abdominal and headaches;
bloating, constipation, diarrhea;
increased blood pressure;
frequent relapses of chronic respiratory diseases;
muscle hypotension;
loss of appetite and weight loss;
shortness of breath with the slightest exertion.

Other symptoms also indicate connective tissue dysplasia. Adult patients have a predominantly asthenic physique, with prominent pathologies of the spine (scoliosis, kyphosis, lordosis), deformity of the chest or lower extremities (valgus foot). Often, people with dysplasia notice a disproportionate size of the foot or hand in relation to height. Joint hypermobility is also a sign of pathologically formed connective tissue. Children with dysplasia often demonstrate their “talents” to their peers: they bend their fingers 90 °, unbend the elbow or knee joint, painlessly pull the skin in the forehead, back of the hand and in other places.

Possible complications

The disease negatively affects the work of the whole organism and the well-being of a person. In children with dysplasia, the growth of the upper and lower jaws often slows down, disturbances occur in the functioning of the organs of vision (myopia, retinal angiopathy develops). On the part of the vascular system, complications are also possible in the form of varicose veins, increased fragility and permeability of the walls of blood vessels.

Diagnostic procedures

Experienced specialists are able to recognize the syndrome of connective tissue dysplasia after the first examination of the patient. However, to make an official diagnosis, the specialist will refer the patient to undergo a series of studies. Then, guided by the conclusions of experts and the results of the necessary tests, the doctor will be able to put an end to the definition of the disease and prescribe treatment.

A variety of symptoms of connective tissue dysplasia interfere with establishing the correct diagnosis. In addition to laboratory tests, the patient will have to undergo:

electromyography;
radiography.

Diagnosis of undifferentiated dysplasia can take a long time, as it requires a painstaking attitude and an integrated approach. First of all, the patient is assigned a genetic examination for mutations in specific genes. Often, doctors resort to the use of clinical and genealogical research (diagnosis of the patient's family members, history taking). In addition, the patient is usually recommended to undergo an examination of all internal organs in order to determine the degree of damage to the disease. The patient must measure the length of the body, individual segments and limbs, assess the mobility of the joints, the extensibility of the skin.

Nuances of therapy

Treatment of connective tissue dysplasia in adults and children is built according to a single principle. Modern science uses many ways to combat the progression of dysplasia syndrome, but in most cases they all come down to drug neutralization of symptoms or their elimination by surgical intervention. Undifferentiated connective tissue dysplasia is practically untreatable due to its multisymptomatic manifestation and the lack of clear criteria for diagnosis.

The drug course includes preparations containing magnesium - this microelement plays an important role in the process of collagen synthesis. In addition to vitamin-mineral complexes, the patient is prescribed funds that correct the functioning of internal organs (cardiotrophic, antiarrhythmic, vegetotropic, nootropic, beta-blockers).

Of no small importance in the treatment of such a disease as collagenopathy belongs to strengthening, maintaining the tone of muscle and bone tissues, and preventing the development of irreversible complications. Thanks to complex treatment, the patient has every chance to restore the functionality of internal organs and improve the quality of life.

In children, connective tissue dysplasia is usually treated conservatively. By regularly taking vitamins of group B and C, it is possible to stimulate the synthesis of collagen, which makes it possible to achieve regression of the disease. Doctors recommend that babies suffering from this pathology drink a course of magnesium- and copper-containing drugs, drugs that stabilize metabolism, increase the level of essential amino acids.

Surgical treatment and rehabilitation

As for the surgical operation, it is decided to switch to this radical method of treatment with pronounced symptoms of dysplasia, which threatens the life of the patient: prolapse of the heart valves of the second and third degree, deformity of the chest, intervertebral hernia.

For recovery, patients suffering from connective tissue dysplasia are recommended to undergo a course of therapeutic massage of the back, neck and shoulder area and limbs.

When diagnosed with a flat-valgus installation in a child, provoked by connective tissue dysplasia, you should contact an orthopedist. The doctor will prescribe the wearing of arch supports, daily gymnastics for the feet, baths with sea salt and massage of the limbs.

If a child complains of pain in the joints, it is necessary to choose shoes with the correct orthopedic sole for him. In toddlers, shoes should tightly fix the position of the heel, toe and ankle joint. In all orthopedic models, the back is made high and elastic, and the heel is no more than 1-1.5 cm.

With connective tissue dysplasia, it is fundamentally important to observe the daily routine: adults should allocate at least 7-8 hours for a night's sleep, and 10-12 hours of sound sleep are shown to children. At an early age, babies should rest during the day.

In the morning, it is advisable not to forget about elementary exercises - it is difficult to overestimate its benefits in such a disease. If there are no restrictions on sports, they should be practiced for life. However, professional training is contraindicated for children and adults and dysplasia. With hypermobility of the joints, degenerative-dystrophic changes in cartilage tissue, ligaments develop rapidly due to frequent trauma, microscopic hemorrhages. All this can lead to recurrent aseptic inflammation and the launch of degenerative processes.

An excellent effect is produced by swimming, skiing, cycling, badminton. Calm dosed walking during walks is useful. Daily physical education and non-professional sports increase the body's compensatory and adaptive capabilities.

What is connective tissue dysplasia?

Connective tissue dysplasia- this 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 is 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, 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 are deformations of the spinal column, expressed in hyperkyphosis, kyphoscoliosis.

The disease also affects the blood vessels. This is expressed in, in the muscular lesion of the arteries, in the appearance of spider veins, in damage to the inner layer of vascular cells (endothelial dysfunction).

Sudden death syndrome, which is caused by abnormalities 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.

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.

Since the disease is a consequence of genetic mutations, its diagnosis requires clinical and genealogical research.

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

Treatment of connective tissue dysplasia

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:
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, sprains, 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:
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 eat 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 additives belonging to the 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.
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.

People suffering from this pathology are contraindicated:
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.

Education: Moscow Medical Institute. I. M. Sechenov, specialty - "Medicine" in 1991, in 1993 "Occupational diseases", in 1996 "Therapy".