Connective Tissue Dysplasia

2024 Author: Josephine Shorter | [email protected]. Last modified: 2024-01-07 17:49

What is connective tissue dysplasia?

Content:

• What is connective tissue dysplasia?
• Connective tissue dysplasia symptoms
• Causes of occurrence
• Diagnostics
• Treatment of connective tissue dysplasia
• Contraindications

What is connective tissue dysplasia?

Connective tissue dysplasia is a disorder in 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 intrauterine and postnatally. Pathologies occur due to genetic factors, affecting both fibrous structures and the main substance that makes up 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 is composed under the influence of malfunctioning, mutated genes, are formed with disruptions and are unable to withstand the mechanical stress imposed on them.

This genetic pathology is classified as follows:

• Dysplasia is differentiated. It is caused by a certain type of hereditary factor and is clinically evident. 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 pathology is characterized by disorders of collagen formation. This group includes diseases such as: flaccid skin syndrome, Marfan cider and Ehlers-Danlos syndromes (all 10 types).
• Dysplasia, undifferentiated. A similar diagnosis is made in the case when the signs of the disease that struck a person cannot be attributed to a differentiated pathology. This type of dysplasia is most common. The disease affects both children and young people.

It should be noted that people with this type of dysplasia are not considered sick. They just have a potential tendency to a large number of pathologies. This causes them to be constantly under medical supervision.

Connective tissue dysplasia symptoms

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, heart palpitations, dizziness, increased sweating, fainting and other manifestations.
• Asthenic syndrome, which is characterized by low performance, rapid fatigue, severe psychoemotional disorders, inability to endure increased physical activity.
• Disturbances in the activity of the valves of the heart or valve syndrome. It is expressed in myxomatous degeneration of the valves (a progressive condition that alters the anatomy of the valve leaflets and reduces their performance) and in the prolapse of the heart valves.
• Thoracodiaphragmatic syndrome, which is expressed in disorders of the structure of the chest, leading to its funnel-shaped or keeled deformation. Sometimes there are deformities 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 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 disorders 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 back 90 ° C, or overextend the elbows and knees at the joints.
• Hallux valgus, when the legs are shaped like an X due to changes.
• Disorders from the gastrointestinal tract, expressed in constipation, abdominal pain or bloating, loss of appetite.

• Frequent diseases of ENT organs. Pneumonia and bronchitis become constant companions of people with a similar genetic abnormality.
• Muscle weakness.
• The skin is transparent, dry and flaccid, pulls 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 jaw grows slowly and does not correspond in size to the general proportions of a person.
• Immunological disorders, allergic reactions.
• Dislocations and subluxations of the joints.
• Myopia, retinal angiopathy, astigmatism, lens subluxation, squint and retinal detachment.
• Neurotic disorders, expressed in depression, phobias and anorexia nervosa.

Psychological problems of patients with 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 aspirations.

Increased anxiety and depression cause 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 a tendency to suicide.

Against the background of these manifestations in patients with dysplasia, the standard of living is significantly reduced, social adaptation is difficult. Autism is sometimes observed.

Causes of occurrence

Certain gene mutations underlie the occurrence of pathological processes. This disease can be inherited.

Some scientists have also suggested that this type of dysplasia can be caused by a magnesium deficiency in the body.

Diagnostics

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

But besides 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, dysbiosis. 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 disturbances in the work of the joints, cannot be ignored.
• Collecting 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 trunk.
• The so-called "wrist test" is also used, when the patient with the help of his thumb or little finger can grasp it completely.
• Joint mobility is assessed using Beyton's 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 an experienced doctor may need only one glance at the patient to understand what his problem is.

Treatment of connective tissue dysplasia

It should be understood that this pathology of the connective tissue is not amenable to treatment, but applying an integrated approach to the therapy 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 the following:

• Selection of specialized sports complexes, physiotherapy.
• Compliance with the correct diet.
• Taking medications to improve metabolism and stimulate collagen production.
• Surgical intervention aimed at correcting the chest and musculoskeletal system.

Therapy without the use of drugs

First of all, it is necessary to provide the patient with psychological support, to tune him in to resist the disease. It is worth giving him clear recommendations on adhering to the correct daily routine, determining the therapeutic and physical training complexes and the minimum necessary loads. Patients need to undergo exercise therapy systematically up to several courses per year. They are useful, but only in the absence of joint hypermobility, stretching, hanging - according to the strict recommendations of a doctor, as well as swimming, practicing a variety of sports that are not on the list of contraindications.

So, non-drug treatment includes:

• Medical massage courses.
• Performing a set of individually selected exercises.
• Sports activities.
• Physiotherapy: wearing a collar, ultraviolet irradiation, salt baths, rubbing and dousing.
• Psychotherapy with a visit to a psychologist and 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 a lot, as collagen tends to disintegrate instantly. The diet should include fish and all seafood (in the absence of allergies), meat, legumes.

You can and should use rich meat broths, vegetables and fruits. It is imperative to include hard cheeses in the patient's diet. On the recommendation of a physician, active biological supplements belonging to the Omega class should be used.

Taking medications

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 drugs in order to select the optimal means.

• To stimulate collagen production, 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

The indications for surgery are valve prolapse, pronounced vascular pathology. Also, the operation is necessary for obvious deformities of the chest or spinal column. If it poses a threat to the patient's life or significantly impairs his quality of life.

Contraindications

People suffering from this pathology are contraindicated:

• Psychological overload and stress.
• Difficult working conditions. Professions associated with constant vibration, radiation and high temperatures.
• All contact sports, weightlifting and isometric training.
• If there is hypermobility of the joints, hanging and any stretching of the spine are prohibited.
• Accommodation in places with hot climates.

It is worth noting that if we 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 containing the progression of the disease is played by the patient's willingness to strive, albeit not complete, but to recover and improve the quality of his own life.

Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist

Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".