Marfan Syndrome: Problems and solutions


  • Problem №1: «bad» heredity
  • Problem №2: "ignorance" of the disease
  • Problem №3: sport carries a risk
  • №4 Problem: daily danger

  • Problem №1: «bad» heredity

    Marfan Syndrome: Problems and solutionsAn instructive case - 15 years agochronic headaches and insightful physician Christoforou Ida saved a life. Christoforou was then 26 years old. He was fond of biking and jogging long distances. At the next medical examination the doctor carefully looked at his long-legged and long-armed patient growth of slightly more than 190 centimeters, his overly elongated fingers, too narrow feet, a curved chest and said, "You look as if you are sick Marfan syndrome." Have you ever about the disease have not heard. This is not surprising. About it, few people know. Yet from Marfan syndrome affected one person in the 5-10 million - roughly the same proportion as for the well-known blood disease - sickle cell anemia. Marfan syndrome is even more common than such well-known diseases, such as hemophilia or bubble fibrosis. Marfan syndrome is caused by a mutant gene. This is a potentially fatal disease associated with disturbances in the connective tissue due to defects in a protein called fibrillin.

    The defects in question, because there aredifferent mutations in the gene is very large. In fact, only one mutant gene to cause the disease, which is transmitted from parents to boys and girls. If Marfan syndrome has one parent, the probability of inheriting it to each child is 50 percent. However, in 25 percent of cases of Marfan syndrome is not inherited and occurs by itself.

    Although, as we have said, the gene from whichdependent disease well known, reliable clinical test for it exists. This is due to the fact that Marfan syndrome can occur due to different mutations of the same gene. However, sometimes it makes prenatal testing if parents have this syndrome and if identified some specific mutation. Nevertheless, and with a positive result of the test should not be discouraged. According to the head of the sector of medical genetics in the University of Pennsylvania, for the 25 years during which he was involved in Marfan syndrome, the average life expectancy of patients has risen sharply and the prospects have improved.

    Problem №2: "ignorance" of the disease

    Today, complications of Marfan syndromeIt can be treated by medication and can be corrected by surgery. Christoforou Ida, for example, we talked about at the beginning, made eight eye operations to save the sight, and replaced part of the aorta that can burst. As his medical problems were identified during and at the time of the relevant measures have been taken, Christopher, like many other patients with Marfan syndrome, has a chance to live up to eighty or even longer.

    Unfortunately, many people with this syndrome of himdo not even know, and often a lack of understanding of the situation leads to their destruction - says the head of a special clinic for patients with Marfan syndrome in San Luis. If the correct diagnosis is not made at the time, patients at risk of dying as early as 30-40 years of age, in particular, due to the destruction of the aorta. For this reason, for example, died in the 46-year-old father of one of the doctor, who was himself an orthopedic surgeon, but did not even know about his illness. Of the five siblings of the Doctor only one child - his brother - had inherited the disease, but thanks to early diagnosis and surgery to replace the weakened aorta and aortic valve and mitral heart valve, he was able to lead a normal life.

    Problem №3: sport carries a risk

    Since patients with Marfan's syndrome are differentvery tall and long-armed, some of them tend to be sports stars, but did not make a career, to die at a young age from aortic rupture. Such was, for example, the fate of Chris Patton, the famous basketball player who died during a game in 1976, and Flo Hyman, volleyball player, died at the age of 30 in 1986. Medical and educational work among doctors, sports trainers helped in recent years to avoid many of these tragedies.

    However, exercise is not always contraindicated. For example, the same Christopher Eade, who recently turned 41 years old, recently returned from a great bike ride. According to him, it is capable of several hours to pedal when going without undue haste. In his hand he wears a monitor that allows you to monitor the heart rate and not exceed the recommended doctor 110 beats per minute, moving at a speed of about 20 kilometers per hour. "I did not violate medical advice, - he says - because for me this is the only chance to stay alive."

    №4 Problem: daily danger

    In most cases, physicians recognize syndromeMarfan physical characteristics of the patient. Anomalies of development of connective tissue lesions of the musculoskeletal system, lens luxation, cardiovascular problems - all characteristic symptoms of the disease. In addition, people with Marfan syndrome are usually much higher growth than other healthy members of the family.

    Especially long are the lower limbs, andarm span, as a rule, exceeds the growth. Fingers too excessively elongated and thin, usually curved spine like scoliosis, chest concave or convex. Patients also differ thinness, lack of muscle mass and flat feet. They have narrow mouths, small jaw and elongated heads. Most of them are short-sighted. However, to correctly diagnose the disease is very difficult because the listed symptoms occur occasionally in healthy people, and they are not always inherent in patients with Marfan syndrome.

    Marfan Syndrome: Problems and solutionsTwo of the most serious complications that are typicalpatients - a loss of vision due to subluxation or dislocation of the lens, and retinal detachment, and the weakening of the aorta, which is fraught with its break with the usual in this case fatal. Both of these problems demonstrate the need to avoid certain types of physical activity. Namely - sports games with sharp throwing motion and jolts, and bicycle racing or sprint jerks over short distances, for which excessively accelerated heart rate. To reduce the risk of patients given drugs such as propranalol, reducing the load on the aorta by reducing the intensity of the contractions of the heart muscle. Cardio-vascular system of patients each year are subjected to inspection, removing echocardiogram showing the status of the aorta and revealing the other cardiac problems.

    Many patients with Marfan syndrome weakenedheart valves and they need to take antibiotics before going to the dentist or undergo other medical procedures that allow entering the blood infectious organisms that can cause cardiac infection.

    Such patients are recommended frequent checksof patients and at the slightest deviation from the norm of view must, without delay, apply to the ophthalmologist to take immediate measures in case of dislocation of the lens or retinal detachment. In order to establish the correct diagnosis is very important to see a doctor, it specializes in the treatment of Marfan syndrome.

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