New Study Shows Marfan Syndrome Often Undiagnosed

bjh_blog | March 21, 2012 | Comments (0)

In this image courtesy of the National Marfan Foundation (NMF) a patient displays one of the physical signs of the syndrome -- unusually long limbs.

In a study released today by the National Marfan Foundation (NMF), only 25 percent of patients with Marfan syndrome surveyed by the NMF said that their primary care doctor – their internist, family doctor or pediatrician – was the first to suspect they have the potentially life-threatening condition.

In the release, our Alan Braverman, MD, said:

“Greater awareness of Marfan syndrome in the medical community has increased early diagnosis, and advances in drug therapies and new surgical options have helped to extend the life expectancy for those with the condition,” said Alan Braverman, MD, director of the Marfan Clinic at Washington University School of Medicine and Barnes-Jewish Hospital and Chair of the NMF’s Professional Advisory Board. “However, there are still doctors who are not familiar with Marfan syndrome and rely on information they learned in medical school decades ago, resulting in too many people not getting the diagnosis or medical management they need.”

Marfan syndrome is a genetic disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. Although it is estimated that more than 200,000 people in the United States have Marfan syndrome, it can be difficult to recognize. What makes undiagnosed Marfan syndrome so dangerous is that one of the connective tissues it affects is the heart’s main blood vessel – the aorta. When it gets stretched, patients are at high risk for thoracic aortic aneurysm formation and aortic dissection, which can often be fatal.

While there are generally some external signs such as tall, thin bodies and long, lanky limbs (it’s thought Abraham Lincoln had Marfan syndrome), there can be times it is more difficult to diagnose. More from the release:

“Early diagnosis is critical so that patients can take medications to lower their heart rate and blood pressure, make lifestyle adaptations (no competitive or contact sports), and have their aorta monitored so they can have surgery before a potentially fatal tear or rupture,” said Dr. Braverman.

For more about Marfan syndrome treatment at Barnes-Jewish, click here or listen to a podcast here.

And to find out how important early diagnosis can be, watch this video here about patient Tiffany Granderson. She wasn’t diagnosed until she was pregnant with her first child and traveled from Indiana to be treated by Dr. Braverman: