Connective tissue dysplasia types. All about connective tissue dysplasia. Without the use of drugs

– a disease associated with improper formation of connective tissue of the fetus in the womb. The disease is hereditary. The nature lies in a defect in the synthesis of the protein responsible for the production of collagen and fibrillin (extracellular matrix). Insufficient or excessive production of these substances leads to pathology in the form of connective tissue dysplasia.

Doctors do not define dysplasia as an isolated disease; the lesion covers the work of the entire body, without isolating a specifically affected organ. 50% of schoolchildren are diagnosed with connective tissue dysplasia.

There is no single classification of DST. Dysplasia is classified according to several factors. Below are two common classifications - by type and by syndrome.

By type, the disease is divided into:

1. Differentiated connective tissue dysplasia (DDCT) is a subtype of dysplasia, in which the syndromes of organs and affected areas characteristic of the type are clearly visible. The group includes: Marfan syndrome, Ehlers-Danlos syndrome, Alport syndrome, osteogenesis imperfecta. DDST occurs less frequently in childhood and is quickly identified by a doctor due to severe symptoms.
2. Undifferentiated connective tissue dysplasia (UCTD) - affects a wide area of ​​organs and causes defective development of connective tissue. If a child complains of a number of types of pain at once, and doctors in each specialization make their own diagnoses, it is worth thinking about dysplasia. Below is a short list of symptoms that characterize VAT syndrome:

• The child complains of pain in the joints.
• Fatigue quickly, loss of concentration.
• Frequent respiratory diseases.
• Changes in vision.
• Problems with the gastrointestinal tract (constipation, dysbiosis, bloating, abdominal pain).
• Diagnosis of muscle hypotonia, planovalgus feet, clubfoot, scoliosis.
• Excessive thinness, poor appetite.

Even with the listed symptoms, children with CTD grow up mobile. If you suspect that your child has the syndrome, you should contact the clinic, where they will offer a range of laboratory tests and consultations with the necessary doctors, who, led by the attending pediatrician, will make a diagnosis and prescribe treatment.

Each case of DST is unique and is accompanied by a number of syndromes; it was decided to classify dysplasia according to a set of symptoms:

• Arrhythmic syndrome includes incorrect functioning of the heart.
• Autonomic dysfunction syndrome manifests itself through sympathicotonia and vagotonia.
• Vascular syndrome: damage to the arteries.
• Syndrome of immunological disorders: immunodeficiency, allergic syndrome.
• Vision pathology syndrome.

Symptoms of connective tissue dysplasia

Symptoms of DST are divided into phenotypic (external) and visceral (internal).

Phenotypic symptoms:

• Constitutional features of the body structure, non-standard development of the bone skeleton. Big feet.
• Curvature of the spine, scoliosis.
• Incorrect bite, violation of facial symmetry.
• Flat feet, club feet.
• The skin is dry and prone to excessive extensibility. The epithelium is susceptible to striae, pigmentation, and capillary network. Tendency to varicose veins.

Visceral symptoms:

• Damage to the central nervous system, autonomic nervous system.
• Frequent headaches, migraines.
• Problems with the genitourinary system, enuresis, nephroptosis. Women with DST syndrome often experience uterine prolapse and frequent miscarriages.
• Excitability, increased anxiety.
• The gastrointestinal tract, respiratory system, and vision are affected.

Often the symptoms mislead doctors who prescribe treatment locally: only what is troubling, when it is necessary to be treated according to the correct diagnosis.

Diagnosis of connective tissue dysplasia

If connective tissue dysplasia is suspected, the doctor prescribes a clinical and genealogical study, including clinical studies, hereditary history and genetic analysis. A mandatory measurement of the child is carried out to determine the percentage of limbs in relation to the body; the size of the foot, the length of the arms, and the circumference of the head are measured. A common “wrist test” is where the child is asked to wrap their little finger or thumb around their wrist. It is important for the doctor to assess joint mobility; the assessment is carried out using the Beighton scale.

The child is prescribed tests: EchoCG, ECG, ultrasound of the abdominal cavity, kidneys and liver, X-ray of the chest and joints.

The results of studies and analyzes are consulted with a neurologist, gastroenterologist, pulmonologist, rheumatologist, neurologist, ophthalmologist, and immunologist. A cardiologist also pays attention to patients, since the syndrome is often accompanied by disturbances in the functioning of the heart - constant murmurs, ischemia, heart rhythm disturbances, which leads to premature consumption of the adaptation reserves of the heart muscle. The cardiologist prescribes treatment based on the diagnosis of DST. The child's family is invited to undergo a medical genetic examination.

After receiving a picture of the disease, the doctor makes a diagnosis and determines the nature of treatment. A genetic disease cannot be eradicated; it is quite possible to slow down or stop the development of dysplasia. But treatment is expected to be regular.

Treatment of connective tissue dysplasia

Complex therapy is developed specifically taking into account age, adapted for childhood and adolescence. If the recommendations are followed, a child with dysplasia lives a full life, no different from others.

Parents of children with connective tissue dysplasia need, first of all, together with their child:

The course includes drug treatment, which involves taking drugs that improve mineral metabolism, stimulate the natural production of collagen, improve the bioenergetic state and increase the immunity and resistance of the child’s body. The drugs are adapted for children.

Compliance with a special diet is a factor influencing positive dynamics in the fight against connective tissue dysplasia in children. The child's diet includes foods containing protein, as it helps the natural production of collagen. The daily menu includes: fish, meat, legumes, nuts and dried fruits. It is recommended to serve dishes enriched with classes of vitamins such as A, C, E, B, PP, Omega-3 and minerals. Rich broths, fruits and vegetables are a must.

Avoids fast food, spicy, fried and fatty foods containing spices, as well as pickles and marinades. Overeating on sweets, baked goods, and confectionery is not allowed. Drinking alcohol and smoking are prohibited for adults.

Let's talk separately about the climate. It is worth refusing to live in hot climates and in conditions of increased radiation.

Surgical treatment becomes an effective method of combating it. The method is used exclusively for severe deformities of the musculoskeletal system and chest. Children with obvious hip dislocation undergo open surgery for open reduction. Doctors advise taking a wait-and-see approach for up to three years. At this age, it will be easier for the child to tolerate the effects of anesthesia.

In adolescence and adolescence, the patient needs psychological support. They are often worried about the future, this is due to frequent illnesses affecting the body. Children's active brains imagine scary pictures, and teenagers often become depressed. He worries - fears transform into phobias. In adolescence, the risk of developing anorexia nervosa and autism is recorded. They are difficult to socialize. Already in adults diagnosed with connective tissue dysplasia, the standard of living decreases; with this type of dysplasia, a number of professions remain prohibited. Work associated with great emotional stress, heavy physical labor, in workshops and factories where vibration and radiation, elevated temperatures are possible, at heights and underground are strictly prohibited for people with connective tissue dysplasia.

Parents of such children need to be aware of the risks in order to catch the manifestation of symptoms in time by visiting a psychologist. It is important to surround the child with attention and care, to constantly work on his self-esteem and other psychological aspects of the manifestation of the disease.

In case of connective tissue dysplasia, the main and decisive point in the results will be visiting a doctor and proper treatment. Since this type of disease progresses over the years, dysplasia caught in childhood will not affect the normal life of the child.

– 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 changes in body proportions, bone deformities, joint hypermobility, habitual dislocations, hyperelastic skin, valvular heart defects, vascular fragility, and muscle weakness. Diagnosis is based on phenotypic characteristics, biochemical parameters, and biopsy data. Treatment of connective tissue dysplasia includes exercise therapy, massage, diet, and drug therapy.

General information

Connective tissue dysplasia is a concept that unites various diseases caused by hereditary generalized collagenopathy and manifested by a decrease in the strength of connective tissue of all body systems. The population frequency of connective tissue dysplasia is 7-8%, but 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 necessary enzymes and cofactors. The direct cause of the connective tissue pathology under consideration is various types 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, poor nutrition and bad habits of the mother, stress, complicated 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 a spectral study of hair, blood, and oral fluid .

Collagen synthesis in the body is encoded by more than 40 genes, for which over 1,300 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 specific, established type of inheritance, a clear clinical picture, known gene defects and biochemical disorders. 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 contractural arachnodactyly), etc. The group of undifferentiated connective tissue dysplasias consists of various pathologies whose phenotypic characteristics do not correspond to any of the differentiated diseases.

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

1. Marfan-like appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
2. Marfan-like phenotype (incomplete set of features of Marfan syndrome).
3. MASS phenotype (includes damage to the aorta, mitral valve, skeleton and skin).
4. Primary mitral valve prolapse (characterized by EchoCG signs of mitral prolapse, changes in the skin, skeleton, joints).
5. Classic Ehlers-like phenotype (incomplete set of features of Ehlers-Danlos syndrome).
6. Hypermobile Ehlers-like phenotype (characterized by joint hypermobility and associated complications - subluxations, dislocations, sprains, flat feet; arthralgia, bone and skeletal involvement).
7. Joint hypermobility is benign (includes an increased range of motion in the joints without involvement of the musculoskeletal system and arthralgia).
8. Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, are not enough to diagnose differentiated syndromes).
9. Increased dysplastic stigmatization with predominant osteoarticular and skeletal signs.
10. Increased dysplastic stigma with predominant visceral signs (minor 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 what follows we will talk about 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, this condition is considered as connective tissue dysplasia syndrome.

Symptoms of connective tissue dysplasia

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

On the part of the skin, there is increased extensibility (hyperelasticity) or, on the contrary, fragility and dryness of the skin. Often, stretch marks, pigment spots or foci of depigmentation, and vascular defects (telangiectasia, hemangiomas) appear on it for no apparent reason. The weakness of the muscular system with connective tissue dysplasia 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 involvement of the central nervous system and autonomic nervous system, various internal organs. Neurological disorders accompanying connective tissue dysplasia are characterized by vegetative-vascular dystonia, asthenia, enuresis, chronic migraine, speech impairment, high anxiety and emotional instability. Connective tissue dysplasia of the heart syndrome may include mitral valve prolapse, patent foramen ovale, hypoplasia of the aorta and pulmonary trunk, elongation and excessive mobility of the chordae, aneurysms of the coronary arteries or interatrial septum. A consequence of the weakness of the walls of venous vessels is the development of varicose veins of the lower extremities and pelvis, hemorrhoids, varicoceles. Patients with connective tissue dysplasia are prone to arterial hypotension, arrhythmias, atrioventricular and intraventricular blocks, cardialgia, and sudden death.

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

From the urinary system, nephroptosis, urinary incontinence, renal anomalies (hypoplasia, duplication, horseshoe kidney), etc. may be observed. Reproductive disorders associated with connective tissue dysplasia in women can be represented by prolapse of the uterus and vagina, metro- and menorrhagia, spontaneous abortions, postpartum bleeding; Cryptorchidism is possible in men. Persons with signs of connective tissue dysplasia are prone to frequent echocardiography, ultrasound of the kidneys, ultrasound of the abdominal organs), endoscopic (FGDS), electrophysiological (ECG, EEG), radiological (radiography of the lungs, joints, spine, etc.) methods. 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 blood parameters, the hemostatic system, immune status are examined, and a skin biopsy is performed. As a screening diagnostic method for connective tissue dysplasia, it has been proposed to study the papillary pattern of the skin of the anterior abdominal wall: identifying an unformed type of papillary pattern serves as a marker of dysplastic disorders. Families with cases of connective tissue dysplasia are recommended 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 daily regimen, nutrition, and health-improving physical activity. In order to activate compensatory and adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, and osteopathy are prescribed.

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

The prognosis of connective tissue dysplasia largely depends on the severity of dysplastic disorders. In patients with isolated forms, the quality of life may not be affected. Patients with multisystem damage have an increased risk of early and severe disability, premature death, the causes of which may be ventricular fibrillation,

Maintaining(relevance). The definition of connective tissue dysplasia from the perspective of a systematic approach is as follows: this is a condition with a progressive course and certain functional disorders, in which there are congenital manifestations of connective tissue dysplasia of varying severity with certain clinical viscero-locomotor lesions in the embryonic or postnatal period. Some circumstances that make connective tissue dysplasia relevant: (1) high frequency in the population (up to 20%), (2) increased environmental stress, (3) the presence of associated pathology and (4) the risk of developing various complications from other organs and systems, (5) the predominance of patients of young, and therefore of working and childbearing age.

General information about the structure of connective tissue. During the embryonic development of the organism, the so-called germinal tissue, mesenchyme, develops from the middle germ layer (mesoderm), from which two primordia subsequently differentiate. One of them gives rise to the development of blood and blood vessels, the other - the formation of all types of connective tissue, including bones, cartilage and smooth muscles. Thus, many tissues and organs that have little in common upon superficial examination turn out to be embryologically related. Moreover, this internal relationship can be manifested by identical damage and reactions under pathological conditions. Connective tissue in the human body is the most diverse. It includes such dissimilar substances as bone and fat, skin and blood. Therefore, it is customary to talk about the group of connective tissues. (A) Connective tissue proper. 1. Loose connective tissue (accompanies all blood vessels, i.e. is found almost everywhere). 2. Dense connective tissue: unformed (skin) and formed (tendons, ligaments, aponeuroses, dura mater, etc.). 3. Adipose tissue (skin, omentum, mesentery, etc.). 4. Reticular tissue (red bone marrow, lymph nodes, thymus, spleen). 5. Pigment tissue (hair, retina of the eyeball, tanned skin, etc.). (B) Cartilage tissue. 1. Hyaline cartilage (connection of the ribs with the sternum, cartilage in the larynx, trachea, etc.). 2. Elastic cartilage (auricle, larynx). 3. Fibrous cartilage (intervertebral discs, pubic symphysis). (B) Bone tissue. (D) Blood. These tissues are united not only by a common origin, but also by a common structure and function. It is known that any tissue consists of cells (nervous, epithelial, muscle), but what is characteristic is that only connective tissue has an intercellular substance between these cells. The main structural elements of connective tissue. (A) Cellular elements: 1. Fibroblasts and their varieties - osteoblasts, chondroblasts, odontoblasts. 2. Macrophages (histiocytes). 3. Mast cells (mast cells). (B) Extracellular matrix: 1. Fibers: collagen (15 types) and elastin. 2. Amorphous substance: glycosaminoglycans and proteoglycans. 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, while elastic fibers return the fabric to its original position after it has been stretched. Functions of connective tissue (1) biomechanical, trophic, barrier, plastic, morphogenetic.

Connective tissue dysplasia is a group of genetically heterogeneous and clinically polymorphic pathological conditions characterized by impaired formation of connective tissue in the embryonic and postnatal periods and uniting a number of gene syndromes (Marfan, Ehlers-Danlos) and undifferentiated (non-syndromic) forms with multifactorial development mechanisms, the manifestations of which, unlike syndrome forms are not so manifest and often remain without due attention.

The mechanisms by which connective tissue dysplasia may develop are: (1) abnormal synthesis or assembly of collagen; (2) synthesis of abnormal collagen; (3) excessive collagen degradation; (4) disruption of the structure of collagen fibers due to insufficient cross-linking; (5) similar abnormalities associated with elastin fibers; (6) tissue destruction through autoimmune reactions; (7) there are many other mechanisms that have not been studied to date.

Undifferentiated connective tissue dysplasia- these are changes in connective tissue, the phenotypic and clinical manifestations of which, on the one hand, indicate the presence of a connective tissue defect, and on the other hand, do not fit into any of the currently known genetically determined mesenchymal deficiency syndromes (Marfan syndrome, Ehlers syndrome, Danlos, osteogenesis imperfecta syndrome, mucopolysaccharidosis, etc.). Thus, undifferentiated connective tissue dysplasia is a heterogeneous group of diseases, which, in turn, can lead to various chronic diseases. Undifferentiated connective tissue dysplasia often corresponds to abnormal structural and functional changes in connective tissue. This leads to disturbances in the morphology and functions of organs. Clinical and morphological manifestations of undifferentiated connective tissue dysplasia are extremely diverse. They may include skeletal changes associated with a violation of the structure of cartilage, disproportionately long limbs, arachnodactyly, chest deformities, spinal scoliosis, flat feet, pathology of dental development, occlusion, cysts, joint pathology (including a tendency to dislocation), hyperelasticity, thinning, tendency to traumatize the skin, dilated veins and external signs of accelerated aging - early formation of wrinkles, deformation of the oval of the face, including the so-called gravitational ptosis (sagging of the soft tissues of the face). In addition, connective tissue dysplasia predisposes to bronchopulmonary and renovascular pathologies, promotes the loss of muscle mass, including cardiac muscles and oculomotor muscles, which leads to cardiovascular, ophthalmological pathologies and dysfunction of the gastrointestinal organs. Lesions of the cardiovascular system are very diverse: (1) mitral valve prolapse (the most common of all cardiac anomalies with connective tissue dysplasia is usually detected by echocardiography), (2) venous insufficiency, (3) varicose veins, as well as pathologies hemostasis.

The most characteristic signs of connective tissue dysplasia(listed in descending order): severe joint hypermobility; skin hyperelasticity; spinal deformity in the form of scoliosis or kyphosis; high sky; flat feet; pronounced venous network on the skin; vision pathology; deformation of the chest in the form of a keeled, funnel-shaped or slight depression on the sternum, flat chest; tendency to easy formation of “hematomas”; weakness of the abdominal muscles; curvature or asymmetry of the nasal septum; wrinkled, tender or velvety skin; hollow foot, hallux valgus, sandal cleft; epicanthus; transverse striations of the feet; “corns” in the joint area; hernias; clinodactyly of the little fingers; ocular hypertelorism; protruding ears, attached earlobes; pale skin; incomplete syndactyly of 1st and 2nd toes; "tissue paper" symptom; telangiectasia on the face and back; age spots; stretch marks in the back; asthenic physique; saddle nose, wide nose bridge; Irregular tooth growth or supernumerary teeth.

Diagnostics undifferentiated connective tissue dysplasia is based on the symptoms presented above and additional data (for example, anthropometry, external respiration, reduced heart size, reduced blood pressure, plethysmography, specific characteristics of electrocardiography and ultrasound phleboscanning). Certain phenotypic or external signs make it possible to suspect connective tissue dysplasia syndrome already at the stage of physical examination. During a clinical examination of relatives of patients with similar diseases, they do not show typical signs of connective tissue damage, while pedigree data indicates the “accumulation” in the families of patients of such pathologies as osteochondrosis, osteoarthritis, joint hypermobility, varicose veins, hemorrhoids, vision pathology, flat feet, tendency to bleed, etc.

Principles of treatment undifferentiated connective tissue dysplasia. (1) Daily routine. Night sleep should be at least 8-9 hours. In the morning, it is advisable to take a contrast shower, and it is not at all necessary to douse yourself with cold water, just pour cool water over your feet. It is necessary to do morning exercises every day. Any physical activity should alternate with rest. (2) Sports activities. If there are no restrictions on playing sports, then any “dysplastic” person should play sports all his life, but in no case professional sports (children involved in professional sports develop degenerative-dystrophic processes in the cartilage of the joints and ligaments very early ). Therapeutic swimming has a good effect, because... it relieves static load on the spine. Skiing, cycling, measured physical activity on exercise machines and exercise bikes, measured walking, hiking, badminton, and table tennis are recommended. Systematic physical activity increases the adaptive capabilities of the cardiovascular system. (3) Therapeutic massage improves trophism of the trunk muscles. The area to be massaged is mainly the spine and cervical-collar area (segmental massage). For pain in the joints or legs, a limb massage is indicated. (4) Orthopedic correction: in the presence of flat feet, constant wearing of instep supports is indicated. In case of severe hypermobility of the joints, accompanied by arthralgia, orthoses for the knee and ankle joints are also recommended. If you complain of pain in the cervical or lumbar spine, it is recommended to sleep on an orthopedic mattress and an orthopedic pillow so that blood circulation in the central nervous system is not disrupted during sleep. (5) Psychotherapy plays an important role in the non-drug rehabilitation program for patients with connective tissue dysplasia. The lability of nervous processes inherent in patients with connective tissue pathology, a feeling of anxiety and a tendency to affective states require mandatory psychological correction, because neurotic behavior and suspiciousness influence their attitude to treatment and implementation of recommendations. (6) Career guidance. When deciding on the vocational guidance of patients with connective tissue dysplasia, it is necessary to remember that they cannot work in professions associated with heavy physical and emotional stress, vibration, contact with chemicals and exposure to x-rays. (7) Diet therapy. Diet therapy for patients with connective tissue diseases is prescribed only after a preliminary examination by a gastroenterologist during a period of relative remission. We recommend foods rich in protein (meat, fish, squid, beans, soybeans, nuts), amino acids, individually selected dietary supplements containing essential amino acids, especially lysine, arginine, methionine, leucine, isoleucine and valine. Food products must contain a large amount of microelements, vitamins, and unsaturated fatty acids. For patients without gastroenterological pathology, it is advisable to prescribe strong broths, jellied meat and fish dishes containing a significant amount of chondroitin sulfates several times a week. Shown are products containing vitamin C (fresh rose hips, black currants, Brussels sprouts, citrus fruits, etc.), vitamin E (sea buckthorn, spinach, parsley, leeks, chokeberries, peaches, etc.), necessary for normal collagen synthesis and having antioxidant activity. Additionally, products are prescribed that are enriched with macro- (calcium, phosphorus-magnesium) and microelements (copper, zinc, selenium, manganese, fluorine, vanadium, silicon, boron), which are cofactors of enzymes that activate collagen synthesis and are necessary for normal mineralization of the skeletal system. (8) Drug therapy. Pathogenetic drug therapy should be of a replacement nature and carried out in the following areas: stimulation of collagen formation, correction of disorders in the synthesis and catabolism of glycosaminoglycans, stabilization of mineral metabolism, correction of the level of free amino acids in the blood, improvement of the bioenergetic state of the body. To stimulate the process of collagen synthesis, it is advisable to use ascorbic acid (vitamin C), mucopolysaccharide preparations (chondroitin sulfate, glucosamine sulfate and their analogues), vitreous body, vitamin D, carnitine chloride, etc. in combination with B vitamins (B1, B2, B3 , B6) and microelements (copper, zinc, magnesium, manganese, etc.); the latter are cofactors of biochemical reactions of intra- and extracellular maturation of collagen molecules and other structural elements of connective tissue. The most rational use of multivitamin preparations with microelements (“Alphabet”, “Multitabs”, “Vitrum”, etc.). Elkar (L-carnitine), a natural substance related to B vitamins, and MagneB6 are also used. To correct disorders of the synthesis and catabolism of glycosaminoglycans, chondroprotectors are used: chondroitin sulfate (Structum), glucosamine sulfate (Dona), etc. To improve the state of mineral metabolism in patients with hereditary collagenopathies, drugs are used that normalize phosphorus-calcium metabolism: vitamin D2, and, according to indications, its active forms: alfacalcidol (Alfa-D3-Teva), oxidevit (alfacalcidol), etc. In order to stabilize the synthesis collagen and other components of connective tissue, as well as to stimulate metabolic and correct bioenergetic processes, the following courses of treatment can be used. 1st course: Magnerot 2 tablets 3 times a day for 1 week, then 2–3 tablets a day for up to 4 months; ascorbic acid (in the absence of oxalaturia and family history of urolithiasis) up to 0.6 g per day - 4 weeks; Mildronate 5 ml IV solution on autologous blood No. 10, then 250 mg 2 times a day for 12 days; then Actovegin 80–200 mg IV drip No. 10, then 200 mg 3 times a day orally before meals for 4 weeks. 2nd course: Zincite 1 tablet 2 times a day for 2–4 months; Riboxin 10 ml of 2% IV solution No. 10, then 1 tablet 3 times a day for 2 months. 3rd course: copper sulfate 1% solution, 10 drops per dose 3 times a day, 4 weeks; Structum 500 mg 2 times a day with meals for 4 months; Calcium Sandoz forte 500 mg/day for 1–2 months. Mexidol 2–4 ml intravenously in a bolus with 10 ml of isotonic sodium chloride solution No. 10, then 0.25–0.50 g per day in 2–3 doses for up to 2–6 weeks. Against the background of these courses, it is recommended to use lymphotropic herbs (rose hip root, mantle grass, burnet) in the form of decoctions 2-3 times a day, replacing the composition of the collection every 2 weeks.

There are internal disorders that lead to a whole bunch of diseases in different areas - from joint diseases to intestinal problems, 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, not knowing 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 disorder of formation or development, which can be applied to both tissues and internal organs in general. This problem is always congenital, as it appears in the prenatal period. If connective tissue dysplasia is mentioned, it means a genetically heterogeneous disease characterized by a disorder in the development of connective tissue. The problem is polymorphic in nature and mainly occurs at a young age.

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

• hereditary collagenopathy;
• hypermobility syndrome.

Symptoms

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

Among the most striking 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 heart valve, including prolapse, cardiac abnormalities, heart failure, myocardial pathologies.
• Asthenization is the patient’s inability to subject himself to constant 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 the immune system, vision.
• Mesenchymal dystrophy.
• Abnormalities in jaw development (including bite).
• Flat feet, frequent joint dislocations.

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

In children

At birth, a child may be devoid of phenotypic signs of connective tissue pathology, even if it is collagenopathy, which has clear clinical manifestations. In the postnatal period, defects in the development of connective tissue are also not excluded, so such a diagnosis is rarely made to 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 much, ligaments are easily injured, and joint hypermobility is observed.

In children over 5 years old, if dysplasia is suspected, you can see:

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

Causes

The basis for changes in connective tissue is genetic mutations, so dysplasia in all forms cannot be recognized as a disease: some of its manifestations do not worsen a person’s quality of life. Dysplastic syndrome is caused by changes in the genes that are responsible for the main protein that forms connective tissue - collagen (less often - fibrillin). If there is a failure in the formation of its fibers, they will not be able to withstand the load. Additionally, magnesium deficiency cannot be ruled out 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 based on the processes occurring with collagen, but this approach allows working only with hereditary dysplasia. The following classification is considered more universal:

• A differentiated disorder of connective tissue, which has an alternative name – collagenopathy. Dysplasia is hereditary, 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 under the supervision of a doctor.

Diagnostics

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

• systematize patient complaints;
• measure the body by segments (for connective tissue dysplasia, their length is relevant);
• 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 studying a urine test 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 pediatrician is responsible for making a diagnosis and developing therapy (initial level), since there is no doctor who works exclusively with dysplasia. Afterwards, 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 are no ways to get rid of this diagnosis, since dysplasia of this type affects changes in genes, however, comprehensive measures can alleviate the patient’s condition if he suffers from clinical manifestations of connective tissue pathology. The most commonly practiced scheme for preventing exacerbation is:

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

It is recommended to resort to surgical intervention for this type of dysplasia only in case of deformation of the chest, serious disorders of the spine (especially the sacral, lumbar and cervical regions). Connective tissue dysplasia syndrome in children requires additional normalization of the daily routine, selection of constant physical activity - swimming, cycling, skiing. However, a child with such dysplasia should not be sent to 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 annually, if possible receiving a lesson plan from a specialist and performing the same actions independently at home. Additionally, you will need to visit the hospital to undergo a set of physical procedures: ultraviolet irradiation, rubdowns, electrophoresis. It is possible that a corset will be prescribed 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 the 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 necessarily consist of lean fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables and unsweetened fruits. You should use small amounts of nuts in your daily diet. If necessary, a vitamin complex can be prescribed, especially for children.

Taking medications

You should take medications 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 connective tissue with dysplasia may include:

• Substances that stimulate the natural production of collagen are ascorbic acid, B vitamins and sources of magnesium (Magnerot).
• Medicines 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 based on chondroitin sulfate - Rumalon, Chondroxide.

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 be fatal due to problems with blood vessels. In children, surgical intervention is practiced less frequently than in adults; doctors try to make do with manual therapy.

Video

Attention! The information presented in the article is for informational purposes only. The materials in the article do not encourage self-treatment. Only a qualified doctor can make a diagnosis and make recommendations for treatment based on the individual characteristics of a particular patient.

Ecology of health: 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, since in any case it is expressed by its own set of symptoms, therefore a person can fruitlessly treat himself for years, not suspecting what is happening inside him.

Connective tissue dysplasia syndrome: causes and symptoms, stages and treatment

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, since in any case it is expressed by its own set of symptoms, 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” means a disorder of formation or formation, which can be applied to both tissues and internal organs in the aggregate. 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 the patient can combine them with all sorts of diseases: the pathology is reflected in most of the internal systems - from the nervous to the mental-vascular, and is even expressed in the form of spontaneous weight loss. Often, dysplasia of this type is discovered only after 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 the 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 in 80% of cases. The mild form is depression, a constant feeling of anxiety, low self-esteem, lack of ambition, indignation at the current state of affairs, supported by a reluctance 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

There are a lot of controversial issues associated with dysplasia of this kind, due to the fact that 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. In addition, 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, because 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.

It is recommended to resort to surgical intervention for this type of dysplasia only in the case of deformation of the chest, 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 the 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, a vitamin complex can be prescribed, exclusively for children.

Taking medications

You should take medications 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 medication. Therapy to improve the condition of connective tissue with dysplasia may include:

Substances that stimulate natural collagen production are 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 death 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. Published