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.
Treatment of connective tissue dysplasia should be started as soon as possible after the pathology is detected. 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 is at stake. In fact, connective tissue dysplasia is a disease that manifests itself with multiple symptoms and is provoked by a number of causes. PredominantlyIn many 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.
Disturbances in the development of structural elements of 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 represented there most widely. As you know, in the structure of this material there are fibers, cells and intercellular substance, 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 overlooked - this substance provides muscle contraction and relaxation.
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 disease
Pathologies affectingconnective 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. The pathology is usually hereditary.
- Eilers Syndrome - Danlo. 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.
- Osteogenesis imperfecta. 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 - toslow growth, curvature of posture, 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 enough 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 addition to babies, young people under the age of 35 are at risk of the disease.
What changes occur in the body
You can suspect connective tissue dysplasia by a number of signs. Patients with this diagnosis notice increased joint mobility and skin elasticity - 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 connective tissue disorders:
- skeletal deformities;
- malocclusion;
- flat feet;
- vascular network.
Rarer 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 oftendysfunction 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 ailments, 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, 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 he althy, but at the same time, his appearance differs in a number of specific features. Conventionally, people with this disease can be divided into two types: the first is tall, round-shouldered, 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 disease;
- muscularhypotension;
- loss of appetite and weight loss;
- shortness of breath with the slightest exertion.
Other symptoms also testify to 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.
Probable 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 conclusionsexperts 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.
Diverse symptoms of connective tissue dysplasia interfere with establishing the correct diagnosis. In addition to laboratory tests, the patient will have to undergo:
- ultrasound;
- MRI;
- CT;
- 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 on the same 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 and mineral complexes, the patient is prescribed drugs that correct the functioning of internal organs (cardiotrophic, antiarrhythmic, vegetotropic, nootropic, vasoactive drugs, 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 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 that 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 of patients suffering from connective tissue dysplasia, it is recommendedtake a course of therapeutic massage of the back, neck and shoulder area and limbs.
When a child is diagnosed with a flat-valgus installation, 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 s alt 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 heel is made high and elastic, and the heel is no more than 1-1.5 cm.
Recommendations and prevention
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 also rest during the day.
In the morning, it is advisable not to forget about elementary exercises - its benefits are difficult to overestimate 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.
Swimming, skiing, cycling, badminton produce an excellent effect. Calm dosed walking during walks is useful. Daily physical education and non-professional sports increase the body's compensatory and adaptive capabilities.
