Connective tissue dysplasia - a pathological condition that develops due to genetic defects caused by bookmarks and differentiation of cells of the connective tissue in the different periods of fetal life. Clinical manifestations of the disease are multifaceted, affecting all organs and systems, and usually progress over time.
GENERAL
Even in the XIX century, clinicians have begun to actively explore the patients with symptoms of joint hypermobility, suggesting that this pathology has a genetic inheritance. Over time, the accumulated data and other manifestations of systemic connective tissue disorders.
In the middle of the last century, American scientists had formulated a list of entities that which belonged to the hereditary connective tissue disease. It contained five diseases and was later significantly expanded. To date, it includes more than 200 different genetically determined disorders.
The next step in the study of connective tissue dysplasia (CTD) is considered to be a detailed description of hypermobility syndrome. These patients complain of a violation of the functions of the joints, but the diagnosis has not detected any signs of rheumatologic diseases. This syndrome was included in the International Classification of Diseases, Tenth Revision under the code M35.7.
In domestic practice, connective tissue dysplasia combines different clinical forms of the disease as an undifferentiated and differentiated character. A common feature of the pathology is a system, that is. E. the defeat of all organs and systems in the human body.
CAUSES
In the development of connective tissue dysplasia syndrome is dominated by genetic mutations, resulting in disrupted replication protein molecules. This has a negative effect on the structure of the collagen fibers, the activity of enzyme systems. Some researchers believe that the mutation is a risk factor for magnesium deficit, which was detected in the majority of patients with dysplasia.
CLASSIFICATION
Uniform classification of connective tissue dysplasia has not yet been developed. This is due to the fact that there is no clear understanding of the pathogenetic mechanisms of disease, etiological factors contributing to the development of pathology.
Given the genetic abnormality release:
- dysplasia, evolving during the synthesis of collagen molecules;
- Dysplasia associated with impaired maturation of proteins;
- dysplasia with inadequate destruction of collagen structure.
Depending on the possible occurrence of the time:
- dysplasia embryonic period;
- dysplasia of the postnatal period.
The division of pathology, depending on the differentiation:
- Differentiated state - there is a clear link between the genetic anomaly and the clinical picture. In such patients, or broken processes of destruction of collagen.
- Undifferentiated state - the most common group of diseases. When this type of dysplasia of connective tissue is not possible to trace the dependence of the gene defect and probable clinical manifestations.
SYMPTOMS
Symptoms of connective tissue dysplasia are extremely diverse. This is due to the fact that the collagen fibers, protein-carbohydrate complexes, enzymatic systems that are affected with the disease, are part of all organs and systems.
neurological syndrome
Its manifestations occur in 95-98% of patients with connective tissue dysplasia:
- pain in the heart;
- feeling heart;
- different vascular tone in the limbs;
- insomnia;
- dizziness;
- headache;
- fine tremor of the fingers;
- numbness;
- loss of consciousness;
- sometimes subfebrile temperature.
Asthenic syndrome:
- a significant decrease in efficiency;
- rapid fatigue, even during routine work;
- emotional lability, which is manifested mood swings;
- loss of appetite with the development of anorexic conditions in severe DST.
Syndrome disrupt the normal functioning of the heart valves:
- sagging valve leaflets in the atrial cavity;
- violation valve structure due to the inferiority of connective tissue;
- increased risk of sudden death.
Thoracic syndrome:
- anatomical defects of the structure of the chest;
- the appearance of abnormal curves of the spine;
- high or low standing diaphragm and decreases or increases in its movement.
The vascular syndrome:
- change in the properties of vascular walls, resulting in their bulging occurs with the formation of an aneurysm;
- Dysfunction of the endothelial layer;
- pathological tortuosity with a high probability of formation of vascular loops;
- varicose veins changes.
abnormal heart rhythm syndrome:
- violation of pulses for physiological pathways;
- inclusion pacemaker at various levels;
- increase or decrease the heart rate.
Syndrome of bronchial and pulmonary dysfunction:
- violation of the structure of the respiratory system;
- unreasonable periodic discontinuities of the pleura, which leads to the development of a pneumothorax;
- decline in lung ventilation.
somatic lesions syndrome:
- incorrect placement of internal organs;
- the failure of the sphincter of the digestive tract;
- development of reflux disease;
- hernias of various localization.
Pillow Syndrome:
- foot defects with its deviation from the axis of the shin;
- violation foot shape, which may lead to changes in posture and difficulty of internal organs;
- permanent dislocation of the joints.
Beauty Syndrome:
- defects of the facial skull;
- dermatological pathology.
The above clinical manifestations significantly impair a patient's quality of life. He becomes closed, limiting external contacts, depressive syndrome may occur on that background.
Connective tissue dysplasia in children is manifested by a combination of asthenic syndrome with any of the above. Particular attention should be paid to the mental state of the child, as in childhood, there is a rapid violation of social adaptation may develop autism.
DIAGNOSTICS
In the diagnosis of dysplasia of connective tissue is important to use a comprehensive approach due to the versatility of the clinical manifestations. The main method that can confirm the pathology is genetic research. To do this, the biological material that is taken from the patient, checking for defects and anomalies.
Anamnesis
During anamnesis data collection can be set:
- the opening time of the disease;
- circle of close relatives with similar symptoms.
inspection
On examination, the patient in the first place, pay attention to the cosmetic defects and malformations of the facial skull. In addition, in patients with connective tissue dysplasia can be observed:
- increase movements in joints;
- thorax irregular shape;
- different length limbs;
- involuntary movements of the eyeballs and fingers;
- signs of pathological lordosis or kyphosis.
Auscultation
Auscultation allows you to listen to the pathological activity of the heart muscle:
- snap atrial or ventricular contraction;
- change in heart rate;
- emphasis on large vessels.
During auscultation of the lungs can be auscultated hard breathing.
laboratory diagnosis
In adults, the connective tissue dysplasia is not accompanied by inflammatory changes. In children, there may be a slight increase in leukocytosis and erythrocyte sedimentation rate. Characteristic for the pathology is the appearance in the final assays of collagen degradation products.
Instrumental methods of diagnosis
- electrocardiography, which recorded the pathological changes of the heart muscle;
- ultrasound of the heart and major blood vessels, allowing the valve to detect defects, the protrusion of the walls;
- X-rays, which are no age-appropriate point of ossification.
Symptomatic pattern in conjunction with the author's methodology for determining the connective tissue dysplasia, data of laboratory and instrumental studies allow for quick diagnosis.
TREATMENT
Treatment of connective tissue dysplasia syndrome is aimed at reducing the rate of progression of the pathological process and prevent possible complications. There are three directions in the treatment of:
- diet;
- Drug-free area;
- the use of medicaments.
Diet
Food-grade dysplasia in patients with connective tissue should be well balanced, and include a large number of protein products.
Drug-free treatment:
- sufficient physical activity (preferably in the form of physical therapy), matched specialist;
- a course of therapeutic massage;
- physiotherapy;
- Consultations of psychotherapist.
medication
Treat dysplasia of connective tissue necessary courses of up to 2 months, during which carried out laboratory monitoring key indicators. recommend:
- to preparations to increase collagen synthesis;
- to drugs that reduce the decay of amino acids;
- a multivitamin and mineral supplements;
- to metabolic substances.
COMPLICATIONS
The most severe complications of connective tissue dysplasia are:
- Sudden cardiac death is associated with anatomical defects of the heart valves, disturbances in the conduction system, etc.
- Rassloyka vascular aneurysms with the development of internal bleeding, strokes.
- Injuries as a result of the fall with loss of consciousness.
- Spontaneous pneumothorax.
- Retinal disinsertion.
- Strangulated hernia.
PREVENTION
Specific prevention of connective tissue dysplasia has not been developed. It is important to minimize the effect of harmful factors on the fetus during pregnancy. Timely passage of genetic testing in families with this pathology allows to calculate the risk of DST for the unborn child.
FORECAST FOR RECOVERY
The prognosis of connective tissue dysplasia depends on a combination of clinical syndromes, presence of complications and age of the patient. Early organ damage the cardiovascular system significantly aggravates the course of disease. With adequate treatment volume, in most cases it is possible to restore the previous level of the patient's quality of life.
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