Marfan's syndrome

Marfan's syndrome (or a spider finger) is the hereditary disease which is characterized by insufficiency of connecting fabric. The disease leads to pathological changes cardiovascular, nervous, musculoskeletal and other systems and bodies.

Origins of a syndrome of Marfan

The spider finger is inherited on autosomal dominantly type therefore occurs almost in an identical ratio, both at men, and at women. This rather rare genetic disease with a frequency of emergence of 1:5000.

Numerous researches showed that Marfan's syndrome is caused by a mutation in the 15th chromosome of a gene of protein of a fibrillin owing to what the structure and production of collagen is broken.

Statistically the mutating gene is transferred to children from sick parents to 75% of cases, and to a disease give the genetic mutations which spontaneously arose at the time of conception in other cases.

The reasons of similar "breakdowns" in genes are up to the end not found out, but with probability in 50% it is possible to claim that the children born with Marfan's syndrome will give it by a disease to descendants.

Signs of a syndrome of Marfan

External changes of an appearance of the person belong to the most noticeable symptoms of a disease. So, sick people have high growth concerning the relatives. Other sign which is evident is an asthenic constitution at which extremities are much longer, and also the spider finger, or "spidery fingers" is observed. All people with this disease have an extended skull, a small jaw with incorrectly growing teeth and deeply put eyes.

Usually signs of a syndrome of Marfan divide into groups according to bodies and systems in which they are shown. For example, the high growth and the extended extremities are manifestations from a musculoskeletal system. Also the rachiocampsis, deformation of a thorax, softness of joints and flat-footedness concern to them.

Symptoms from eyes – opacification and dislocation of a crystalline lens (its shift from natural location), short-sightedness, flaking of a retina and the increased intraocular pressure.

The most dangerous signs of a syndrome of Marfan are the symptoms concerning cardiovascular system. The disease leads to stratification of walls of an aorta and expansion of its root, and it is fraught with an unexpected rupture of the main artery of heart and almost inevitable lethal outcome. Besides, at Marfan's disease it is sometimes observed leaky closing of valves of heart that leads to increase in its sizes, noise, an asthma and irregular heartbeat.

Displays of pathology from lungs, skin are considered as less serious and a nervous system.

Diagnosis of a syndrome of Marfan

It is possible to diagnose Marfan's syndrome only after comprehensive examination by specialists of a different profile: cardiologist, orthopedist, ophthalmologist and geneticist.

The doctor specializing in inherited disorders will study history of a family with the purpose of identification of those relatives who died of cardiovascular diseases.

The cardiologist will appoint a chest X-ray and measurement of electric activity of heart (ECG). The ekhokardiogramma on the basis of which the sizes of an aorta will be received is also necessary and functioning of valves is checked.

The orthopedic surgeon will define whether there is a curvature of a thorax and backbone, flat-footedness and other common problems.

Survey of eyes by the ophthalmologist will allow to find pathological changes of a crystalline lens if those are available.

Criteria of diagnosis of a syndrome of Marfan rather strict and exact. It is connected with the fact that a number of features of a disease is typical (for example, not always the tall and thin person with long slender fingers is sick). Besides, there are also other diseases of connecting fabric which are followed by similar symptoms.

The final diagnosis depends on confirmation or a denial of a spider finger in the family anamnesis. If someone from relatives had this disease, there is enough confirmation in two systems of an organism, otherwise – in three.

Symptoms of a disease are not shown in the early childhood, and are found only with age. Timely diagnosis of a syndrome Marfana is very important, but even if the diagnosis is made for years, it is possible to treat signs to a final verdict of doctors.

Treatment of a syndrome of Marfan

Today there are no effective techniques of treatment of a syndrome of Marfan. All actions come down to the prevention of complications of a disease.

To prevent dangerous aortal changes, drug Anaprilin is appointed, but its efficiency is not proved. The surgical plastics of an aorta and valves of heart is sometimes carried out. To pregnant women with Marfan's disease and the expressed pathology from cardiovascular system carry out planned Cesarean section. For prevention of thromboses and an infectious endocarditis after an operative measure anticoagulants and antibiotics are appointed.

At severe scoliosis physiotherapeutic procedures, and also mechanical strengthening of a skeleton are shown. Surgical correction is carried out if the angle of deviation of a backbone makes 45 ° and more.

The forecast of life of people with Marfan's syndrome depends, first of all, on weight and extent of the changes affecting cardiovascular system. At a rupture of a pulmonary trunk and an aortic aneurysm in most cases the patient dies.

Constant medical control and regular diagnostic inspection means treatment of a syndrome of Marfan. Physical activity of patients has to be reduced to average or low level, that is it is necessary to exclude sports competitions, contact sports, scuba diving and isometric loadings. The women of childbearing age having this disease need to undergo medicogenetic consultation surely.