Connective tissue dysplasia is a disease that affects the musculoskeletal system and internal organs. It occurs with the same frequency in adults and children. The clinical manifestations of this pathology are accompanied by symptomatology, characteristic of a number of other common diseases, which, when diagnosed, misleads even experienced specialists.
The treatment of connective tissue dysplasia should be started as soon as possible after the detection of pathology. 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
For the first time faced with this diagnosis, most patients do not understand what is at stake. In fact, connective tissue dysplasia is a disease that manifests itself in multiple symptoms and is triggered by a number of causes. In a predominant number of cases, the ailment is transmitted genetically from relatives in a straight ascending line, arising from malfunctions in the natural processes of collagen synthesis. With dysplasia, almost all organs and the musculoskeletal system are affected.
Disruptions in the development of structural elements of connective tissue inevitably lead to numerous changes. At first, symptoms appear on the part of the articular-muscular system - the elements of connective tissue are presented there most widely. As you know, the structure of this material contains fibers, cells and intercellular substance, its density depends on their ratio. Throughout the body, connective tissue is characterized by friability, hardness and elasticity. In the formation of skin, bones, cartilage, blood vessel walls, the main role belongs to collagen fibers, which prevail in the connective tissue and maintain its shape. The importance of elastin cannot be neglected - this substance provides muscle contraction and relaxation.
Connective tissue dysplasia develops due to mutations in the genes responsible for the natural processes of synthesis. Modifications can be very diverse, affecting any parts of the DNA chain. As a result, the structure of connective tissue, consisting mainly of elastin and collagen, is not formed correctly, and structures formed with impairments cannot withstand even average statistical mechanical stresses, stretch and weaken.
Differentiated varieties of the disease
Pathologies that affect the connective tissue of internal organs, joints and bones are conventionally divided into differentiated and undifferentiated forms of dysplasia. In the first case, an ailment is implied, which has characteristic symptoms and manifests itself in well-studied genetic or biochemical defects. Doctors designated diseases of this kind by the generalizing term “collagenopathy”. The following pathological conditions are included in this category:
- Marfan's syndrome. Patients with this disease are usually tall, have long arms and legs, a curved spine. Violations can occur with the organs of vision, up to detachment of the retina and subluxation of the lens. In children, connective tissue dysplasia provokes the development of heart failure on the background of mitral valve prolapse.
- Flaccid skin syndrome. This ailment 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. Pathology, as a rule, is hereditary.
- Eulers Syndrome - Danlo. A complex genetic disease, manifested by pronounced looseness of the joints. Such connective tissue dysplasia in adults leads to increased skin vulnerability and the formation of atrophic scars.
- Imperfect osteogenesis. This is a whole complex of genetically determined pathologies that develop due to impaired bone formation. Due to the struck dysplasia, its density sharply decreases, which inevitably leads to fractures of the limbs, spine and joints, and in childhood - to slow growth, curvature of the posture, characteristic disabling deformities. Often, with a lesion of the bone tissue, the patient has problems in 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. At risk of the disease, in addition to babies, are young people under the age of 35 years.
What changes are occurring in the body
Suspect connective tissue dysplasia can be a number of signs. Patients with this diagnosis notice an increased mobility of the joints and elasticity of the skin - this is the main symptom of the disease, which is characteristic of any form of collagenopathy and an undifferentiated form of the disease. In addition to these manifestations, the clinical picture can be supplemented by other disorders of the connective tissue:
- skeletal deformations;
- malocclusion;
- flat feet;
- vascular network.
Rare symptoms include abnormalities in the structure of the auricles, brittle teeth, and the formation of hernias. In severe cases of the disease, changes in the tissues of the internal organs develop. Dysplasia of the connective tissue of the heart, respiratory system and abdominal cavity in most cases is preceded by the development of autonomic dystonia. Most often, dysfunction of the nervous autonomic system is observed at an early age.
Signs of connective tissue dysplasia become apparent gradually. At birth, phenotypic characteristics may be completely absent in children. 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 environmental situation in the region of residence, nutrition quality, chronic ailments, stresses, and the degree of immune defense.
Symptoms
Dysplastic changes occurring in the connective tissues of the body have virtually no obvious external signs. In many ways, the 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 healthy, but at the same time, his appearance differs in a number of specific features. Conventionally, people with such a disease can be divided into two types: the first is tall, stooped, 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;
- increase in blood pressure;
- frequent relapses of chronic respiratory diseases;
- muscle hypotension;
- loss of appetite and weight loss;
- shortness of breath at the slightest exertion.
Other symptoms indicate connective tissue dysplasia. Adult patients have a predominantly asthenic physique, with prominent spinal pathologies (scoliosis, kyphosis, lordosis), deformation of the chest or lower extremities (hallux valgus). Often people with dysplasia noticeable disproportionate sizes of the foot or hand in relation to growth. Joint hypermobility is also a sign of pathologically formed connective tissue. Children with dysplasia often show their “talents” to their peers: they bend their fingers 90 °, extend the elbow or knee joint, painlessly stretch the skin in the forehead, back of the palm and in other places.
Probable complications
The disease negatively affects the work of the whole organism and human well-being. In children with dysplasia, the growth of the upper and lower jaws often slows down, disturbances in the functioning of the organs of vision occur (myopia, retinal angiopathy develops). From 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 connective tissue dysplasia syndrome after the first examination of the patient. However, to make an official diagnosis, the specialist will direct the patient to undergo a series of studies. Then, guided by the conclusions of experts 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.
To establish the correct diagnosis is prevented by the manifold symptoms of connective tissue dysplasia. In addition to laboratory tests, the patient will have to undergo:
- Ultrasound
- MRI
- CT
- electromyography;
- radiography.
Diagnosis of undifferentiated dysplasia can take a lot of time, as it requires a painstaking attitude and an integrated approach. First of all, the patient is assigned a genetic examination for mutations of specific genes. Doctors often resort to using a clinical genealogical study (diagnosis of family members of the patient, 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, evaluate the mobility of the joints, the extensibility of the skin.
The nuances of therapy
The treatment of connective tissue dysplasia in adults and children is built on a single principle. Modern science uses many methods to combat the progression of dysplasia syndrome, however, in most cases, they all come down to the drug neutralization of symptoms or their elimination by surgical intervention. Undifferentiated connective tissue dysplasia is practically untreatable due to multisymptomatic manifestation and the absence of clear criteria for diagnosis.
The drug course includes preparations containing magnesium - it is this trace element that plays an important role in the process of collagen synthesis. In addition to vitamin-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 a disease such as collagenopathy belongs to strengthening, maintaining the tone of muscle and bone tissues, and preventing the development of irreversible complications. Thanks to comprehensive treatment, the patient has every chance to restore the functionality of internal organs and improve the quality of life.
In children, treatment of connective tissue dysplasia is usually carried out in a conservative way. By regularly taking vitamins of groups B and C, it is possible to stimulate the synthesis of collagen, which makes it possible to regress the disease. Doctors recommend that children suffering from this pathology take a course of magnesium and copper-containing drugs, drugs that stabilize metabolism, and increase the level of essential amino acids.
Surgical treatment and rehabilitation
As for the surgical operation, they decide to switch to this radical method of treatment with the pronounced symptoms of dysplasia, which threaten the patient's life: prolapse of the heart valves of the second and third degree, chest deformity, intervertebral hernia.
To restore the patient suffering from dysplasia of the connective tissue, it is recommended to undergo a course of therapeutic massage of the back, zone of the cervico-shoulder region and limbs.
With a diagnosed flat-valgus installation in a child, provoked by connective tissue dysplasia, you should consult an orthopedist. The doctor will prescribe wearing arch support, daily exercises for the feet, baths with sea salt and limb massage.
If a child complains of joint pain, it is necessary to choose shoes with the correct orthopedic sole. In babies, shoes should tightly fix the position of the heel, toe and ankle joint. In all orthopedic models, the back 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 regimen of the day: adults should spend at least 7-8 hours on a night's sleep, and children should be given 10-12 hours of good sleep. At an early age, babies should rest during the day.
In the mornings, it is advisable not to forget about elementary exercise - its benefits can hardly be overestimated with such a disease. If there are no restrictions on playing sports, they should do all their life. However, for children and adults, dysplasia and professional training are contraindicated. With joint hypermobility, degenerative-dystrophic changes in the cartilage tissue, ligaments due to frequent trauma, and microscopic hemorrhages rapidly develop. All this can lead to recurrent aseptic inflammation and the launch of degenerative processes.
The excellent effect is swimming, skiing, cycling, badminton. Useful calm dosed walking during walks. Daily physical education and non-professional sports increase the compensatory and adaptive capabilities of the body.