More info on Marfan syndrome?

Question

Some drs say I have it, some day I don't! How is it determined and what exactly is it? Are you put on medication? I'm a slim, 6' 23 yr old. I had poor eyesight, (had laser since), not so good hearing, loose knee joints, slight sciatic tilt in my spine... Don't know if that helps anyone...

Answer 1

Definition Return to top

Marfan syndrome is an inheritable disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Causes, incidence, and risk factors Return to top

Marfan syndrome is inherited as an autosomal dominant trait. However, up to 30% of cases have no family history and are so-called "sporadic" cases. In sporadic cases, Marfan syndrome is believed to result from a spontaneous new mutation.

Marfan syndrome is caused by mutations in the gene fibrillin-1. Fibrillin-1 plays an important role as the scaffolding for elastic tissue in the body. Disruption of such scaffolding (by mutations in fibrillin-1) results in changes in elastic tissues, particularly in the aorta, eye, and skin. Mutations in fibrillin-1 also cause overgrowth of the long bones of the body, resulting in the tall stature and long limbs seen in Marfan patients.

How this overgrowth happens is not well understood. Marfan syndrome causes skeletal defects typically seen in a tall, lanky person with long limbs and spider-like fingers (arachnodactyly), chest abnormalities (pectus excavatum or pectus carinatum), curvature of the spine, and a particular set of facial features, including a highly arched palate and crowded teeth.

Common eye problems are nearsightedness and dislocation of the lens of the eye.

The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta (aortic root), with aortic regurgitation, and prolapse of the mitral valve. Affected people may develop a dissecting aortic aneurysm.

It is believed that President Lincoln had this disorder. Decendents of his have it. That is why he was so tall and had such long arms.

Answer 2

While I can't provide you with any firsthand knowledge or experience on Marfan Syndrome, I would suggest you check out Jonathan Larson. He is the writer of Rent and lived with Marfan Syndrome. If you have the DVD of Rent, check out the special features and it will have a biography of Jonathan Larson and give you info on Marfan's... it's pretty interesting.

Answer 3

Check this site out:
http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=2
This should answer most all your questions.