Marfan syndrome: problems and solutions

Problem number 1: «Bad» heredity

Instructive case - 15 years ago Chronic headaches and insightful therapist saved Christophore. Christophore was then 26 years old. He was fond of the bike and sports jogging for long distances. With the next medical examination, the doctor carefully looked at his long-legged and long-growing patient a little more than 190 centimeters, on his too elongated fingers, too narrow feet, curved chest and said: «You have such a kind, as if you are sick by Marfan syndrome». You never heard of this disease. No wonder. About her few people know. And yet, one person is suffering from Marfan's syndrome by 5-10 thousand - about the same proportion as for the widely known blood disease - sickle anemia. Marfan syndrome is even more common than such well-known diseases, like hemophilia or bubble fibrosis. Caused by Martha Syndrome by a mutant genome. This is a potentially fatal disease associated with violations in connective tissue due to defects in protein called Fibrillin.

Defects about which are in question, arise because of various mutations in a very large gene. In fact, one mutant gene is enough to cause this disease, which is transmitted from parents to boys and girls. If the Martha Syndrome is available at one parent, then the probability to inherit it for each child is 50 percent. However, in 25 percent cases, Marfan syndrome is not inherited, but arises by itself.

Although, as we said, the gene, from which the disease depends, well known, reliable clinical test for it does not exist. This is due to the fact that Marfana syndrome may arise due to various mutations of this same gene. True, sometimes they produce a faith check if parents have this syndrome and if some kind of defined mutation is identified. However, with a positive result of the test, one should not. According to the Head of the Medical Genetics sector in the University of Pennsylvania, for those 25 years, during which he was engaged in marfan syndrome, the average life expectancy of patients increased dramatically and their prospects were significantly improved.

Problem number 2: «ignorance» Diseases

Today, complications caused by Marfan syndrome can be treated with medication, and they can be corrected by surgical intervention. Christophore an idea, for example, about which we spoke at the beginning, made 8 ophthalmological operations to preserve vision, and also replaced part of the aorta that could burst. Since his medical problems have been identified during and during the appropriate measures, Christophore, like many other patients with Martan syndrome, has chances to live to the eighth ten and even longer.

Unfortunately, many people with this syndrome do not even suspect about him and often such misunderstanding of the situation leads them to death - he says the head of a special clinic for patients with Martan syndrome in San Louis. If the correct diagnosis is not done during, patients risk die already in 30-40 years of age, in particular due to the destruction of the aorta. For this reason, for example, the father of one doctor died at the 46th age, who himself was an orthoped surgeon, but he didn't even suspect about his illness. Of the five brothers and sisters of this doctor, only one child - his brother - inherited this disease, but due to the timely diagnosis and operations to replace the weak part of the aorta, as well as the aortic valve and the mitral heart valve, he was able to lead a normal life.

Problem number 3: Sport is hazardous

Since patients with marfana syndrome are distinguished by very high growth and long-growing, some of them are striving to become sports stars, but without making careers, die in the young age from the aortic break. Such was, for example, the fate of Chris Pattone, a famous basketball player who died during the game in 1976, or Flo Hyman, a volleyball player who died at the age of 30 in 1986. Medical educational work among sports coaches helped recently avoid many similar tragedies.

But physical exertion is not always contraindicated. For example, the same crystorm idea who recently turned 41 years old, recently returned from a large cycling trip. According to him, he is able to twist pedals for a few hours if it goes without excessive rush. On his hand, he constantly carries a monitor, which allows you to follow the heart pulse and not exceed a 110 strikes recommended by a doctor per minute, moving at a speed of about 20 kilometers per hour. «I do not violate medical recommendations, "he says, because it's the only chance to stay alive for me».

Problem number 4: Casual hazards

In most cases, doctors recognize Martan syndrome on the physical characteristics of the patient. Anomalies for the development of connecting tissues, lesions of the musculoskeletal system, dislocation of crustal, cardiovascular problems - all these characteristic signs of illness. In addition, people with Martan syndrome are usually much higher growing than other healthy family members.

Especially long there are lower limbs, and the scope of hands, as a rule, exceeds growth. Hand fingers are also too elongated and thin, the spine is usually twisted, as with scoliosis, breastplate concave or convex. Patients are also characterized by honey, insufficient muscle mass and flatfoot. They have narrow mouths, small jaws and elongated heads. Most of them are mining. However, correctly diagnose the disease is very difficult, since the listed features occur sometimes and in healthy people, and they are not always inherent in patients with Martan syndrome.

Two most serious complications characteristic of patients are a loss of view due to a subluxation or dislocation of lens and retinal detachment, and the weakening of the aorta, which is fraught with a gap with the usual in this case. Both of these problems indicate the need to avoid certain types of physical activity. Namely - sports games with sharp cast movements and jesters, and cycling racing or sprint springs on short distances, at which the heart rhythm is excessively accelerated. To reduce the risk, patients give such medicines as propranalol, which reduces the load on the aorta due to the reduction of the intensity of the reduction in the heart muscle. Cardiovascular system of such patients annually inspection, removing echocardiograms showing the state of the aorta and opening other cardiological problems.

Many patients with Martan syndrome weakened heart valves and they must take antibiotics before going to a dentist or subjected to other medical procedures, in which it is possible to enter the blood of infectious organisms capable of calling cardiological infections.

In such patients, frequent vision checks and patients are recommended for the slightest disorder of vision from the norm must be applied to an ophthalmologist without delay to immediately take action in the event of a crust relocation or retinal detachment. To establish the correct diagnosis it is very important to contact the doctors specializing in the treatment of Martan's syndrome.