Marfan Syndrome

What is Marfan Syndrome ?

It is a hereditary disease characterized by disorders of the connective tissue. The primary function of connective tissue is to bind the whole body together and provide the required structure for growth and development. Connective tissue occurs in all parts of the body and hence Marfan syndrome can cause malfunction of varied body systems including the eyes, the nervous system, blood vessels, lungs, skin, heart, spinal cord, etc.

The incidence rate of Marfan syndrome in USA is around 1 in 5000 persons.Marfan syndrome can affect people of both the genders, people of all age groups including children, as well as people from all ethnicities and races.The degree of deficits and anomalies differs among the affected persons.

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Symptoms of Marfan syndrome

Depending on the body system affected, the abnormalities that arise due to Marfan syndrome varies from person to person. The severity levels also tend to vary among affected individuals.Some patients may have mild symptoms while others may suffer from severe defects.

Listed below are some of the body systems that experience anomalies due to Marfan syndrome:

  • The cardiovascular system: Most individuals affected by Marfan syndrome are more likely to elicit irregularities of the blood vessels and cardiac functions. The syndrome can result in aortic dilation which weakens the aortic wallsdue to excess stretching. This can in turn elevate the risk to aortic tear or rupture, along with other heart problems. Sudden death is an ever-present danger. Leaky cardiac valves can cause heart murmurs, while severe instances can result in palpitations, breathing problems, fatigue, etc.
  • The skeleton:Persons affected by Marfan syndrome are normally tall, slender, lean and with loose joints. They may have a mouth with an arched roof resulting in logjam of the teeth. The face is long and narrow. As compared to the rest of the body, the arms, legs, fingers, and toes can be unusually disproportionate. People with Marfan syndrome may have curved spine, a concave or convex chest, and flat feet.
  • The nervous system: The dura is a thin membrane filled with fluid and which covers the spinal cord and the brain. The dura in patients with Marfan syndrometends stretch and wear when he/she grows older. This abnormality places pressure on lower part of the spine and damages the bones around the spine causing numbness or weakness of legs, and pain.
  • The eyes: Almost 50% of the people affected by Marfan syndrome suffer from minor or severe instances of lens dislodgement wherein the lens in one or both the eyes may be lower or higher than usual, or be displaced to the side. A severe complication of the syndrome is retinal detachment. Myopia, glaucoma,and cataracts are some of the other disorders occurring in people affected by Marfan syndrome.
  • The respiratory system: Normally, Marfan syndrome does not affect the lungs. In rare instances, the pulmonary air sacs may experience stretching thereby causing its weakening, and eventual lung collapse.
  • The skin:People with Marfan syndrome bear stretch marks on skin even without gaining weight. It can appear at any age and it does not create any complications. But Marfan syndrome can increase the risk to development of abdominal or inguinal hernia.

Causes of Marfan syndrome

Marfan syndrome is caused due to the presence of errors in a gene that performs the function of giving the relevant instructions to a protein called fibrillin-1. This protein is an important part of connective tissue. As the Marfan syndrome is a congenital disorder caused by the mutated gene, the defect gets passed on from the parents to the child.However, the symptoms can be detected at any point in life.

Usually, the defective gene is passed on by a parent with the syndrome. It may also be noted that affected parents carry a 50 percent risk of transferring the mutation to the child.

In about 25% cases of Marfan syndrome, the mutations occur at the time of conception. In rare cases, it may also occur at random at the time of formation of maternal egg or paternal sperm.

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The signs and the levels of severityof Marfan syndrome are different for different people and are dependent on the variable degree of geneticmutation.

Treatment of Marfan syndrome

There is no known cure for Marfan syndrome. Treatmentsare given to control the prevailing signs.

  • All individuals affected by Marfan syndrome have to be regularly checked for presence of spinal defects so that immediate medical remedies can be taken as and when necessary. Other abnormalities of the skeleton can be corrected via surgery or other therapies.
  • Pain due to the inflammation of dura can be subdued by medications.
  • Marfan syndrome patients with cardiac anomalies also require regular monitoring so that prompt and effective corrective measures can be taken. Heart disordersare corrected by surgery and/or medications
  • Eye disorderscaused due to Marfan syndrome can be managed either by wearing corrective glasses or by surgery, if required.
  • The lungs in a person with Marfan syndrome are vulnerable to development of complications. Hence, smoking should be completely avoided.

Marfan Syndrome  – Life Expectancy

There has been a rise in the life expectancy of patients with Marfan Syndrome. Since the last 20 years, there has been a 24 percent rise in longevity. According to the American Journal of Cardiology,  the average life expectancy in case of Marfan Syndrome patients has risen to 70 years for men and 74 for women. In the year 1972, the benchmark was just 41 for me and 49 for women

Marfan Syndrome – Pictures

Here are the pictures of Marfan Syndrome patients, notice the characteristics like long face, slender hands, legs and torso

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