Marfan's disease: the main symptoms and causes of development

One of the diseases of a chronic form is Marfan's disease. The essence of it is a genetic violation of human connective tissues, which are responsible for maintaining a stable cell structure. They hold together the vessels, internal organs, muscles.

Marfan syndrome is understood as a violation of this natural balance due to the mutation of fibrilin, that is, the main "building" substance of the organism. Changing the genetic structure contributes to the development of certain pathologies of internal organs, most often the cardiovascular system suffers, the bone tissue changes , and vision often falls.

It is sad to admit, but Marfan's disease is currently incurable. Unfortunately, scientists have not yet been able to find a remedy that relieves this ailment for life. However, everything is not so bad, and you can not let go of your hands, because doctors are able to conduct symptomatic treatment. This is significant progress, given the fact that 20 years ago people with this disease lived no more than forty years. Now patients can expect almost a full life, of course, provided that the diagnosis was made on time, and the treatment began at an early stage of the disease.

Till now in laboratories various preparations directed on struggle against an illness are tested. It is believed that in the near future huge funds will be based on inhibitors. And then, perhaps, Marfan's disease will not be such a terrible diagnosis for many people, and eventually will become a rapidly curable pathology.

Mutation of the genotype occurs extremely rarely. As a rule, Marfan's disease passes from parents to children. Pleases the fact that in the world practice it is extremely rare: in one case out of five thousand. But if the parents suffer from this syndrome, then with a fifty percent probability it can be passed on to the child. Only 25% of children get Marfan's disease not from their parents, but from a mutation of the sperm or egg. Symptoms can manifest themselves very clearly, and then the patients have similar facial features, but sometimes the clinical picture is so blurred that the symptomatology is difficult to disassemble.

Marfan syndrome: symptoms

A characteristic sign of the development of the disease is considered too high a patient. True, it does not always appear, depending on the specific case. Also, pay attention to the size and shape of the fingers on the arms and legs, they are unnaturally stretched, become very long and thin. If we talk about the physique of a sick person, then it is disproportionate, since the arms and legs are too long in relation to the trunk. As mentioned above, many patients have similar facial features. This is expressed in an unnaturally high skull, the wrong direction of tooth growth, deep-set eyes. Also, patients often have scoliosis, flat feet, chest deformation, problems with the heart and blood vessels.

Such a diagnosis, as Marfan's disease, does not mean the end of life. A person should not put an end to his further development and adhere to bed rest as a deeply sick patient. Remember that with such a disease you can, and even need to lead an active lifestyle. For example, together with all play in developing games, doing physical exercises, walking in the fresh air, swimming. Of course, there may be different complications, but they are perfectly controlled by medications.

The main thing is to regularly visit the doctor, as only he can reasonably assess the general condition of a person and react in a timely manner to any change in him. Do not drop your hands, fight and do not close your eyes to the existing problem, and then you will succeed. Enjoy every day you live so that no problems can distract you from the main thing in life.