Marfan syndrome is a genetic disorder of the connective tissue, the body-wide system that provides strength and flexibility to bones, ligaments, muscles, blood vessel walls, and heart valves. It occurs in one out of 5,000 people worldwide and can develop even when there is no family history of the disorder.) Affected individuals often are tall and slender with elongated fingers and toes, skin that is stretchy, and an arm span that exceeds their body height. Many have unusually flexible joints, long and narrow faces, abnormal curvature of the spine (scoliosis), and a sunken or protruding chest. About half of all patients have vision problems; most have some degree of nearsightedness. Marfan’s patients may develop cataracts in mid-adulthood and are at higher than normal risk for glaucoma (increased pressure within the eye).
The most troublesome aspect of Marfan is involvement of the heart and major blood vessels. Weakness of the aorta, the main artery that carries blood from the heart to the rest of the body, can result in a tear in the lining that allows blood to leak into the aortic wall, compressing its interior and blood flow through it. This is a surgical emergency that can result in sudden death if it is not quickly diagnosed and treated.
When detected early, Marfan complications usually can be managed by a team of specialists including a cardiologist to watch out for heart problems. The team should be headed by a physician who is familiar with all aspects of the syndrome.
Because strenuous exercise can stress the aorta, patients should avoid it. This means no contact sports or heavy lifting, although less vigorous activities such as golf, biking and swimming may be possible with physician guidance. Affected children and teens need to be checked yearly for signs of scoliosis and should also have annual eye exams by an ophthalmologist. Any nearsightedness can be corrected with glasses or contact lenses. Later in life, early detection and treatment of cataracts and glaucoma usually can head off or lessen vision problems.
Marfan patients are also at higher than normal risk for respiratory problems, including sudden collapse of the lungs. As adults, patients are at increased risk of early emphysema, even if they don’t smoke. Despite all of this, most patients with Marfan syndrome who get proper medical management now have a normal life expectancy. You can learn more about this disorder and its treatment from the National Marfan Foundation at www.marfan.org.
Andrew Weil, M.D.