Marfans Syndrome

Marfan’s Syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue makes up much of bone, cartilage, tendons and ligaments. Dr. Marfan first recognized Marfan’s Syndrome in 1896. The disorder affects about 1 in every 10,000 newborns and currently about 40,000 Americans have the disorder. In Marfan’s syndrome, a mutation in the genes causes a defect in the production of fibrillin. Fibrillin is the main building block in connective tissue. Patients with Marfan’s Syndrome suffer from many different problems because of their problem with the production of fibrillin.

One problem that patients with Marfan’s Syndrome can have that is related to their weak connective tissue is skeletal abnormalities. Patients who have the disorder are usually very tall and have long limbs. Many times thei

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Most of the time cardiovascular problems are the main cause illness and death for patients with Marfan’s Syndrome. The connective tissue of the heart and lungs is usually very weak in patients with the disorder. Doctors also look for problems in the area of vision. The presence of skeletal abnormalities is usually looked at to reinforce the diagnosis of Marfan’s Syndrome in a patient.

There are also many lifestyle considerations that patients with Marfan’s Syndrome have to take into consideration. There are some who say that Abraham Lincoln had the disorder based on his lanky body and the fact that his relatives had the disease although, it has not been proved. They should also avoid very strenuous exercise programs. This is where there is a dislocation in the lens of the eye due to weak ligaments within the eye. The best form of exercise for patients with Marfan’s Syndrome is walking, bicycling, or jogging because patients can go at their own pace and avoid any serious injuries. The lungs in the body many times collapse because of weak connective tissue also. Many times, patients have trouble with the valves in their heart opening and closing. In some medical centers, genetic testing is available to check for chromosomal abnormalities what would affect fibrillin production. Patients who develop vision problems are treated with eye drops, special contacts or laser eye surgery. Patients with Marfan’s Syndrome also develop eye problems many times. Currently, there is no way to prevent Marfan’s Syndrome.

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