Marfan Syndrome by Marcella Cook

An information flyer about the disease.

What is Marfan syndrome?

Marfan syndrome is a genetic disorder of the connective tissues caused by a defect in a gene called fibrillin-1, that can effect any part of the body. The defect causes an increase in the protein transforming growth factor beta or TGFB, for short.

Ex. Eyes, heart, blood vesssels, and skeletal system.

How do you get it?

If a childs' parent or parents has it, that child has a 50% chance of inheriting the disorder. If a childs' parent or parents do not have the disease, they could be the first to get it.

Do you have Marfan syndrome?

Marfan syndrome can affect any part of the body. It can be hard to tell if i person will have it while their still a baby.

The most commont sign is the overall appearence. The person will unusually be tall, thin, and long with long limbs, fingers, and toes.

Their eyes may have early cataracts, severe nearsightedness, a detached retina or other disorders.

In the cardiovascular system, their may be an enlarged or bulging aorta, "floppy” mitral valve or other problems.

They could also have stretch marks -not from pregnancy or weight gain-, a sudden collapse of the lung, or a swelling of the sac around the spinal column.

Is there a cure?

There is no cure for Marfan syndrome. A person can have treatments done to manage the damage done by the disease.

For the skeletal system, the person could wear an orthopedic brace or have surgery the protect the spine, breastbone, lungs and heart.

For the eyes, in most cases glasses or contact lenses will help but sometimes surgery is needed.

For the cardiovascular systems, a person could wear a medical alert bracelet, manage with drugs like beta-blockers, or surgery to replace a valve or repair the aorta.

In the nervous system, you can take medication to minimize the pain if dural ectasia develops.

For the lungs, immediate medical attention if you have or have symptoms of spontaneous pneumothorax.