Marfan syndrome is a very rare genetic disease. According to statistics, this disease occurs in 1 person out of 5,000. In most cases, the disease is hereditary. In 75% of cases, parents transmit the mutated gene to their children.
The causes of Marfan's syndrome lie in the mutation of the gene responsible for the synthesis of fibrilin. It is this substance is an important protein of the body, responsible for the contractility and elasticity of connective tissue.
Characterized by Marfan syndrome pathological changes in the cardiovascular, nervous system and musculoskeletal system. The main defect is in collagen disorders and affects the elastic fibers of connective tissue.
Signs and symptoms of the disease
Marfan syndrome, the signs of which are manifested in all different ways, progresses mainly with the aging and aging of a person. As for the skeleton of the patient, it has the following features:
- high growth;
- flexible and thin skeleton;
- Hands with Marfan's syndrome, like legs, have disproportionately long fingers;
- a narrow long face;
- often uneven teeth;
- Embedded or convex sternum;
- scoliosis;
- flat feet .
Many patients with this disease suffer from myopia, cataracts or glaucoma. Due to a defect in connective tissue, people often suffer from serious cardiovascular diseases. Sometimes it causes sudden death. When Marfan syndrome is diagnosed, the patient's heart is noisy. There is palpitations and shortness of breath.
People with Marfan syndrome have weakness or numbness in the legs. They often have inguinal or ventral hernia, certain problems with breathing in a dream. The risk of lung cancer increases dramatically.
Symptom Marfan, the symptoms of which are quite diverse, limits the life expectancy of the patient to 40-45 years.
Classification of the disease
In medical practice, it is customary to distinguish several forms of Marfan syndrome:
- expressed;
- erased.
The degree of severity can be severe or mild.
As to the nature of the course of the disease, it can be stable or progressive.
Diagnostic measures
Initially, the diagnosis of Marfan syndrome is based on the analysis of the patient's pedigrees. The neuropsychological and physical state of a person is also studied. The harmony and proportionality of individual parts of the body are investigated.
As a rule, for the diagnosis is necessary to have at least one of the five main symptoms of the disease:
- arachnodactyly;
- dislocation of the lens of the eye;
- kyphoscoliosis;
- aortic aneurysm;
- deformity of the sternum.
Still there must be at least two additional signs:
- mitral valve prolapse ;
- myopia;
- high growth;
- pneumothorax;
- flat feet;
- hypermobility of the joints;
- stria.
Most often, the diagnosis of this syndrome does not cause complications. However, in 10% of cases additional X-ray-functional methods of investigation are prescribed. The Marfan syndrome, the diagnosis of which is quite accurate, can sometimes be confused with a similar disease - the Lois-Datz syndrome. Methods of treatment of diseases are different, so it is extremely important not to take one syndrome after another.
Treatment Options
For the correct diagnosis, the patient will have to visit certain specialists:
- cardiologist;
- orthopedist;
- genetics;
- ophthalmologist.
Marfan's syndrome does not respond to any particular treatment. This is due to the fact that scientists have not yet learned how to alter mutated genes. However, there are a number of variations in therapy that can be aimed at improving the performance and condition of a particular organ and preventing complications.
It is important to adhere to the right balanced diet, take vitamins and generally lead a healthy lifestyle. The Marfan syndrome, whose treatment is ambiguous, requires the patient to perform a complex of physical aerobic exercises. However, the load should be gentle and moderate.