Marfan syndrome is a rare disease, but very dangerous. Dangerous not with its current, but by their consequences. The disease can be almost asymptomatic, so that the person does not suspect the wrong, but the danger it is truly fatal.
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Marfan syndrome is a rare hereditary disease of the connective tissue, in which the anomalies of the eyes, bones, hearts and blood vessels is observed.Marfan Dominant Syndrome Gene, but the degree of manifestation of this disease is different. People with Martan's disease have a higher growth than most peers and what their relatives; The distance between the tips of the fingers divorced to the hands exceeds the growth of the patient. Long and thin fingers. Breasts are often deformed: Savy or protruding forward. Characterized mobility in joints, flatfoot and hump in combination with spinal curvature (kifoscoliosis), as well as hernia. Fat layer Usually thin.
Often meets the sliding crustacions of both eyes. The doctor with an ophthalmoscope can see the edge of the lens in the pupil. Patients often detected strong myopia; Sometimes the retinal retinal detachment is developing.
The weakness of the wall of the aorta may be accompanied by a gradual expansion of this most important artery and the formation of aneurysm (protruding in the wall of the blood vessel. It happens that blood (stratification of aorta) is searched between the wall layers; If aneurysm is broken, massive bleeding occurs. As the aorta expands, the aortic valve, located when leaving the heart in aorta, begins to skip blood - arises aortic regurgitation (blood starts to go in the opposite direction), or the lack of aortic valve. The mitral valve, which is between the left atrium and the left ventricle, can also pass blood; Its prolapse is possible, that is, the deflection of the flaps back, in the left atrium. In the lungs may develop with liquid bags (cysts). When the cyst breaks, pneumothorax occurs - the accumulation of air in the space that surrounds the lungs; Breathing makes it difficult.
The risk of complications largely depends on how difficult anomalies. The main danger is a sudden gap of aorta that can quickly lead to death. The aortic break is more likely during active sports activities.
The main purpose of treatment is to prevent complications on blood vessels and eyes. Eyes need to examine once a year. If any violation of vision is developing, a man suffering from Marfan syndrome must immediately consult a doctor.
In order to prevent the expansion and stratification of the aorta, reserpine or propanol are usually used - drugs that reduce blood emissions from the heart. If the aorta expands, the affected part in some cases are offered to restore or replace surgically, which gives good results.
Children with Marfan syndrome are usually growing very high. Therefore, girls with too fast growth, the doctor may recommend the therapy hormones (estrogens and progesterons).
Treatment is usually starting at the age of 10 to cause early puberty and thus stop growth.
If patients with Marfan syndrome want to have children, it is advisable for them to pass genetic consulting, which will allow to assess the risk of inheritance of their children's syndrome.
