Contents
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, clinically clearly manifested. 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.
Symptoms of connective tissue dysplasia
The pathology manifests itself with many symptoms. Their severity can be mild or severe.
The disease manifests itself in each patient individually, however, it was possible to combine the symptoms of impaired connective tissue formation into several large groups of syndromes:
neurological disorders. They occur very often, in almost 80% of patients. Autonomic dysfunction is expressed in panic attacks, palpitations, dizziness, increased sweating, fainting and other manifestations.
Asthenic syndrome, which is characterized by low performance, fatigue, severe psycho-emotional disorders, inability to endure increased physical activity.
Violations in the activity of the heart valves or valvular syndrome. It is expressed in myxomatous valve degeneration (a progressive condition that changes the anatomy of the valve leaflets and reduces their performance) and in prolapse of the heart valves.
Thoracodiaphragmatic syndrome, which is expressed in violations of the structure of the chest, leading to its funnel-shaped or keeled deformation. Sometimes there are deformations of the spinal column, expressed in scoliosis, hyperkyphosis, kyphoscoliosis.
The disease also affects the blood vessels. This is expressed in varicose veins, in muscular damage to 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 ° C, or hyperextension of the elbows and knees at the joints.
Valgus deformity of the lower extremities, when the legs, due to changes, have the shape of the letter X.
Disorders of the gastrointestinal tract, expressed in constipation, abdominal pain or bloating, decreased appetite.
Frequent diseases of the ENT organs. Pneumonia and bronchitis become constant companions of people with a similar genetic anomaly.
Muscle weakness.
The skin is transparent, dry and sluggish, it is pulled back painlessly, sometimes it can form an unnatural fold on the ears or the tip of the nose.
Patients suffer from flat feet, both transverse and longitudinal.
The upper and lower jaws grow slowly and do not correspond in size to the general proportions of a person.
Immunological disorders, allergic reactions.
Dislocations and subluxations of joints.
Myopia, retinal angiopathy, astigmatism, lens subluxation, strabismus and retinal detachment.
Neurotic disorders, expressed in depression, phobias and anorexia nervosa.
Psychological problems of patients suffering from connective tissue dysplasia
Patients with an established diagnosis belong to the group of psychological risk. They underestimate their own capabilities, have a low level of claims.
Increased anxiety and depression causes high vulnerability of patients. Cosmetic defects in appearance make such people insecure, dissatisfied with life, lack of initiative, reproaching themselves for every little thing. Often, patients have suicidal tendencies.
Against the background of these manifestations in patients with dysplasia, the standard of living is significantly reduced, social adaptation is difficult. Sometimes there is autism.
Causes
Certain gene mutations underlie the occurrence of pathological processes. This disease can be inherited.
Some scientists are also of the opinion that this type of dysplasia may be caused by magnesium deficiency in the body.
Diagnostics
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:
Analysis of patient complaints. In most cases, patients indicate problems with the cardiovascular system. Mitral valve prolapse is often found, less often aortic aneurysm. Also, patients suffer from abdominal pain, bloating, dysbacteriosis. There are deviations in the respiratory system, which is due to the weak walls of the bronchi and alveoli. Naturally, cosmetic defects, as well as disorders in the functioning of the joints, cannot be left without attention.
Taking an anamnesis, which consists in studying the history of the disease. People suffering from a similar genetic disease are frequent “guests” of cardiologists, orthopedists, ENT doctors, gastroenterologists.
It is necessary to measure the length of all segments of the body.
The so-called “wrist test” is also used, when the patient can completely grasp it with the thumb or little finger.
Joint mobility is assessed using the Beighton criteria. As a rule, patients have their hypermobility.
Taking a daily urine sample in which hydroxyproline and glycosaminoglycans are determined as a result of collagen breakdown.
In general, the diagnosis of the disease is not difficult, and for an experienced doctor, one glance at the patient is enough to understand what his problem is.
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:
Selection of specialized sports complexes, physiotherapy.
Compliance with the correct diet.
Taking medication to improve metabolism and stimulate collagen production.
Surgical intervention aimed at correcting the chest and musculoskeletal system.
Therapy without drugs
First of all, it is necessary to provide the patient with psychological support, set him up to resist the disease. It is worth giving him clear recommendations on observing the correct daily routine, determining medical and physical education complexes and the minimum required load. Patients are required to undergo exercise therapy systematically up to several courses per year. Useful, but only in the absence of hypermobility of the joints, stretching, hanging – according to the strict recommendations of the doctor, as well as swimming, playing a variety of sports that are not included in the list of contraindications.
So, non-drug treatment includes:
Therapeutic massage courses.
Performing a set of individually selected exercises.
Doing sports.
Physiotherapy: wearing a collar, UVI, salt baths, rubdowns and douches.
Psychotherapy with a visit to a psychologist and a psychiatrist, depending on the severity of the patient’s psycho-emotional state.
Diet for connective tissue dysplasia
The diet for people with dysplasia is different from regular diets. Patients need to eat a lot, since collagen tends to instantly disintegrate. The diet must include fish and all seafood (in the absence of allergies), meat, legumes.
You can and should 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 supplements belonging to the Omega class should be used.
Taking medication
The drugs are taken in courses, depending on the patient’s condition, from 1 to 3 times a year. One course lasts approximately 6 to 8 weeks. All drugs must be taken under the strict supervision of a physician, with monitoring of vital signs. It is advisable to change the preparations in order to select the optimal means.
To stimulate the production of collagen, synthetic B vitamins, Ascorbic acid, Copper sulfate 1%, Magnesium citrate and other complexes are used.
For the catabolism of glycosaminoglycans, Chondrotin sulfate, Chondroxide, Rumalon are prescribed.
To stabilize mineral metabolism, Osteogenon, Alfacalcidol, Calcium Upsavit and other agents are used.
To normalize the level of free amino acids in the blood, Glycine, Potassium orotate, Glutamic acid are prescribed.
To normalize the bioenergetic state, Riboxin, Mildronate, Limontar, Lecithin, etc. are prescribed.
Surgical intervention
Indications for surgical intervention are valve prolapse, pronounced vascular pathologies. Also, surgery is necessary for obvious deformities of the chest or spinal column. If it poses a threat to the life of the patient or significantly impairs the quality of his life.
Противопоказания
People suffering from this pathology are contraindicated:
Psychological overload and stress.
Difficult working conditions. Professions associated with constant vibration, radiation and high temperatures.
All types of contact sports, weightlifting and isometric training.
If there is hypermobility of the joints, hanging and any stretching of the spine are prohibited.
Living in hot climates.
It is worth noting that if you approach the treatment and prevention of a genetic anomaly in a comprehensive manner, then the result will certainly be positive. In therapy, it is important not only the physical and medical management of the patient, but also the establishment of psychological contact with him. A huge role in the process of curbing the progression of the disease is played by the patient’s willingness to strive, albeit not completely, but to recover and improve the quality of his own life.