SOURCE: National Marfan Foundation

National Marfan Foundation

December 14, 2010 09:00 ET

Marfan Syndrome -- a Frequently Undiagnosed Genetic Disorder

PORT WASHINGTON, NY--(Marketwire - December 14, 2010) - Did you know approximately 200,000 Americans have Marfan syndrome or a related disorder, yet experts say that about half of those are not diagnosed? The National Marfan Foundation is committed to spreading awareness about how to recognize the features of Marfan syndrome so that people can seek a diagnosis and receive medical management for this syndrome which is more common than many think.

Marfan syndrome is a potentially fatal disorder of connective tissue, which holds the body together and helps control how it grows. As a result, Marfan syndrome features can occur in many different parts of the body. People are born with Marfan syndrome, but features can appear at any age, from infancy, childhood and adolescence to adulthood, and frequently get worse as people age.

People with Marfan syndrome frequently have telltale signs that are easy to see.

  • They are often taller than unaffected family members, with disproportionately long arms and legs.

  • They may have an indented or protruding chest bone and a curved spine, flat feet and loose joints.

  • They may be nearsighted and have dislocated lenses in their eyes.

What can't be seen is the effect of the condition on the aorta, the large artery that carries blood away from the heart. It is prone to enlarge and could tear or rupture -- leading to a sudden, early death -- if it's not treated.

If someone has any of these features, an evaluation by several doctors is necessary -- an eye doctor, heart doctor and bone doctor. Utilizing new diagnostic criteria, doctors can make an accurate diagnosis and prescribe the optimum treatment and follow up, whether someone has a family history of the condition and or if they are the first in their family to be affected.

For more information, contact the NMF at 800-8-MARFAN, log on to www.marfan.org

"In this age, when people with Marfan syndrome can live into their 70s if they are diagnosed and treated, there are still too many tragedies, too many people dying undiagnosed," said Carolyn Levering, President and CEO of the National Marfan Foundation. "If you know the characteristics, you can save a life."

This campaign is supported by CDC Cooperative Agreement Number 1H75DD000703-01. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the Centers for Disease Control and Prevention.

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