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What is the connective tissue dysplasia?

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What is the connective tissue dysplasia?

Connective tissue dysplasia is a disturbance of the formation and development of connective tissue, observed as the growth stage of the embryo, and at people after they are born. In General, the term dysplasia refer any violation of formation of tissues or organs, which can occur both in utero and postnatal. Pathology occur due to genetic factors, affect both the fibrous structure and the basic substance that makes up connective tissue.

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

Genetic mutations happen anywhere, connective tissue spread throughout the body. Chain elastane and collagen, from which it is under the influence of a malfunctioning, mutated genes are generated disturbances and are not able to withstand the required mechanical loads.

This genetic pathology is classified as follows:

  • Dysplasia differentiated. It is due to hereditary factor of a certain type, clinically evident. Genetic defects and biochemical processes is well studied. All associated with differentiated dysplasia disease called collagenopathy. This name is due to the fact that the pathology of disorders characterized by the formation of the collagen. In this group are diseases such as the syndrome of flaccid skin, Marfan syndrome and Ehlers-Danlos syndrome (all 10 types).
  • Dysplasia nedifferentsirovannost. A similar diagnosis is made in the case where the signs of the disease afflicting the person, cannot be attributed to differential pathology. Most common is this type of dysplasia. The disease affects both children and young people.

    • It is worth noting that people with this kind of dysplasia is not considered sick. They just have potentialthe propensity for a large number of pathologies. This leads to them being under constant medical supervision.


    Symptoms of connective tissue dysplasia

    Pathology is manifested by many symptoms. Their severity can be mild and severe.

    The disease is manifested in each patient individually, however, managed to combine the symptoms of disorders of connective tissue formation in several large groups of syndromes:

    • Neurological disorders. Very common, almost 80% of patients. Expressed vegetative dysfunction in panic attacks, heart palpitations, dizziness, sweating, fainting and other symptoms.

    • Asteniceski syndrome, which is characterized by low efficiency, fatigue, severe emotional disorders, inability to tolerate excessive physical loads.
    • Violations in the activities of the heart valves or valve syndrome. Expressed in mixomatosis degeneration of the valve (degenerative condition that alters the anatomy of the valve leaflets and reducing their health) and prolapses of the heart valves.

    • Thoracolumbalis syndrome, which is expressed in violations of the structure of the thorax, leading to its funnel-shaped or keel-shaped deformation. Sometimes there are deformations of the spine, expressed in scoliosis, Hyper-kyphosis, kyphoscoliosis.

    • With the disease also suffer from the blood vessels. This is expressed in varicose veinsin the muscle lesions of the arteries, appearance of spider veins, damage to the inner cell layer of blood vessels (endothelial dysfunction).

    • Sudden infant death syndrome, which is caused by irregularities in the functioning of the valves and vessels of the heart.
    • Low body weight.
    • The increased mobility of the joints. For example, a patient suffering from dysplasia, can bend a little finger backward at a 90 degree or pererezhut elbows and knees joints.
    • Valgus deformity of the lower extremities, when the feet due to changes have the form of the letter X.
    • Violations by the gastrointestinal tract, manifested in constipation, abdominal pain or bloating, loss of appetite.
    • Common diseases of ENT – organs. Pneumonia and bronchitis are constant companions of people with similar genetic anomaly.
    • Muscle weakness.
    • Transparent skin, dry and sluggish, drawn painlessly, and sometimes can form an unnatural fold on the ears or the tip of the nose.
    • Patients suffer from flat feet as transverse and longitudinal.
    • The upper and lower jaw grows slowly and the size is not consistent with the General proportions of the person.

    • Immunological disorders, allergic reactions.

    • Dislocations and subluxations of the joints.

    • Myopia, angiopathy of the retina, astigmatism, lens subluxation, strabismus, and retinal detachment.

    • Neurotic disorders, manifested in depression, phobias and anorexia nervosa.

    Psychological problems of patients suffering from connective tissue dysplasia

    Patients diagnosed to belong to the group of psychological risk. They underestimate their own abilities, have a low level of claims.

    Increased anxiety and depression causes a high vulnerability of patients. Cosmetic defects in the exterior makes these people insecure, dissatisfied with life, beginization, precausion himself in every detail. Often, patients present suicidal ideation.

    Against the background of these manifestations in patients with dysplasia significantly reduced quality of life, social adaptation difficult. Sometimes there is autism.


    Causes

    In virtue of the occurrence of pathological processes are specific gene mutations. This disease can be inherited.

    Some scientists also Express an opinion about the fact that dysplasia can be caused by a magnesium deficiency in the body.


    Diagnosis

    As the disease is a consequence of genetic mutations, for the diagnosis requires a clinical and genealogical study.

    But beyond that, doctors to confirm the diagnosis using the following methods:

    • Analysis of the patient's complaints. In most cases, patients indicate problems with the cardiovascular system. Often found mitral valve prolapse and, less frequently, aortic aneurysm. Alsopatients suffer from abdominal pain, bloating, dysbiosis. Deviations in the respiratory system that is caused by weak walls of the bronchi and alveoli. Naturally, without attention and can not leave cosmetic defects and irregularities in the joints.
    • Medical history, which is the study of the history of the disease. People suffering from this genetic disease – frequent "guests" cardiology, orthopedics, ENT doctors, gastroenterologists.
    • You need to measure the lengths of all body segments.
    • Also used the so-called "test the wrist" when a patient with the help of the thumb or little finger can encircle it completely.
    • Assessment of joint mobility using the criteria of Baton. Usually, patients show their hypermobility.
    • Taking daily urine samples which is determined by hydroxyproline and glycosaminoglycan as a result of collagen breakdown.

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

    Treatment of connective tissue dysplasia

    It should be understood that this pathology connective tissue is not curable, but by using an integrated approach to the treatment of the disease, you can slow down the process of its development and is largely to facilitate human life.

    The main methods of treatment and prevention include the following activities:

    • Recruitment of specialized sports complexes, physical therapy.
    • Follow a proper diet.
    • Medications to improve metabolism and stimulate the production of collagen.
    • Surgical intervention aimed at the correction of the thorax and musculoskeletal system.

    Therapy without medication

    It is first necessary to provide patient psychological support, set it to resistance of the disease. Should give him a clear recommendation for the proper daily routine, to determine the treatment – physical systems and the minimum required load. To undergo physical therapy patients are required systematically to several courses a year. Useful, but only in the absence of joint hypermobility, stretching, chant - under strict doctor's recommendations, as well as swimming, lesson different types of sport, not included in the list of contraindicated.

    So, non-pharmacological treatment includes:

    • Courses of therapeutic massage.
    • Performance of a complex of individually selected exercises.
    • Sports.
    • Physical therapy: wearing collar, UFO, salt baths, rubbing and pouring.
    • Psychotherapy with a visit to the psychologist and psychiatrist, depending on the severity of the emotional state of the patient.

    Diet for connective tissue dysplasia

    Diet for people suffering from dysplasia differs from conventional diets. There are patients need a lot, because collagen has the property to disintegrate instantly. The diet must include fish and all seafood (if no Allergy), meat, legumes.

    You can and should drink nourishing meat broths, vegetables and fruit. Be sure to include in the diet of the patient hard cheese varieties. The physician should use an active biological additives belonging to the class of "omega".

    Medications

    Supplementation exercise courses, depending on the condition of the patient 1 to 3 times a year. One course lasts approximately 6 – 8 weeks. All medications must be taken under strict doctor's supervision with monitoring of vital signs. Drugs advisable to change, with the aim of selecting the optimal funds.

    • For stimulating collagen production using synthetic b vitamins, Ascorbic acid, copper Sulfate 1% Magnesium citrate and other complexes.
    • For the catabolism of glycosaminoglycans administered Chondroitinsulfat, symptoms, Rumalon.
    • To stabilize the mineral oil used Osteogenon, Alfacalcidol, calcium Upsavit and other means.
    • For the normalization in the blood level of free amino acids administered Glycine, Potassium orotate, Glutamic acid.

    • To normalize the bioenergetic status appoint Riboxin, Mildronat, Limontar, Lecithin , etc.

    Surgery

    Indications for surgical intervention is the prolapse of the valves, pronounced pathology of vessels. Also surgery is necessary in the apparent deformities of the chest or spine. If it is a threat to patient's life or significantly impairs quality of life.


    Contraindications

    People suffering from this pathology is contraindicated:

    • Psychological overload and stress.

    • poor working conditions. Professions related to constant vibration, radiation and high temperatures.
    • All kinds of contact sports, weightlifting, and isometric training.
    • If you have hypermobility of the joints – forbidden chant and any stretching of the spine.
    • Accommodation in places with a hot climate.

    It is worth noting that if you approach the treatment and prevention of genetic anomalies is complex, then the result will be positive. In therapy it is important to not only physical and medical management of patient, and establishing with them a psychological contact. A huge role in the process of restraining the progression of the disease is played by the willingness of the patient to seek though not complete, but recovery and improve the quality of your life.