Marfan syndrome is a dangerous disease thatis associated with a mutation of a certain group of genes. People with a similar diagnosis suffer from disorders in the structure of connective tissue. For the first time this disease was described in 1876 by Williams, but only in 1896 the French pediatrician A. Marfan studied in more detail the symptoms and causes of this problem and gave it a name.
Marfan Syndrome: Causes
As already mentioned, this is hereditarya disease that is associated with a mutation of genes encoding fibrin protein. It is this protein that is responsible for the normal structure of the connective tissue. A person with a similar mutation is born with defects. However, the symptoms can be expressed in different ways. For example, there are patients who have been diagnosed with an accident, since there were no visible signs. And, on the contrary, there are people who suffer greatly from the disease, as it is accompanied by a mass of deformations and disturbances.
Marfan syndrome: symptoms
Connective tissue is an integral componentalmost all organs and systems in the human body. Therefore, Marfan's syndrome can manifest itself in different ways - the disease can affect the skeleton, musculature, nervous and cardiovascular system:
- Quite often a sick person can be identifiedon the structure of the body. Patients with this syndrome, as a rule, are very tall and thin, with disproportionate, elongated limbs. Many suffer from such defects as scoliosis, flat feet, irregularities in the structure of the thorax.
- Marfan syndrome is often accompanied by eye damage - a person is displaced one or two lenses at once. Such people are more prone to glaucoma, cataracts and retinal detachment.
- As a rule, the disease is accompanied by a violation in the structure and work of the cardiovascular system - in particular, there is a weakening of the aortic wall, which is extremely dangerous for life.
- Skin stretch marks are often observed in patients, even after the end of the growth and development process. In addition, they are prone to inguinal and abdominal hernias.
Marfan syndrome: treatment and diagnosis
To date, there is nospecific diagnostic method. It is necessary to have an integrated approach. For the beginning the doctor collects the full anamnesis, then appoints tests and researches of the musculoskeletal and circulatory systems, and also an ophthalmologic examination.
As for the method of treatment, then, likemost genetic diseases, Marfin's syndrome remains with man forever. But with the help of modern medicine methods one can increase the life expectancy, and also provide the patient with comfort and convenience. The patient must regularly undergo examinations with doctors. For example, in case of problems with eyesight, specialists can assign wearing glasses or lenses. With the help of drugs, you can remove some symptoms from the circulatory system, and orthopedic adaptations will help in the proper development of the skeleton.
Today, the world is activelystudy of this disease. Scientists are trying to find out what happens after the mutation of the gene, and whether it is possible to stop the process or at least somehow affect it. In addition, pharmacologists are working on the manufacture of new, more effective drugs that can remove symptoms and eliminate the risk of death.</ p>