A little medical detective work helped one doctor in training identify a rare and potentially fatal disorder that had taken a powerful toll on her family and might have with her, too.
In her third year of medical school, Kathleen Mimnaugh, now an internist in Charleston, W.Va., diagnosed herself with Marfan syndrome, a disorder caused by a malformation of the body's connective tissue, the material between cells that holds them together, giving them strength, form and shape.
This connective tissue abnormality, which affects an estimated 200,000 Americans, is associated with distinctive physical characteristics including tall stature, loose joints, long fingers and eye problems. Because these features are common in the general population or may be hard to detect, Marfan's can be overlooked — with dangerous consequences.
The syndrome also weakens portions of the aorta, the major blood vessel carrying blood away from the heart. "That leads to progressive enlargement of the aorta over time and once that reaches a critical size, the aorta is at risk to tear or rupture, which can cause sudden death," explains Dr. Hal Dietz professor in the Institute for Genetic Medicine at Johns Hopkins University School of Medicine in Baltimore, Md. "If the skeletal characteristics aren't enough to make someone think about Marfan syndrome, the very severe heart problems can go undetected."
And undetected they were for Mimnaugh's family. After making the diagnosis in herself, she met with a medical geneticist and showed him some surprising findings. "I went back with a family tree I had made that showed early death in tall people," says Mimnaugh who found that one aunt died suddenly at age 19, and three uncles in their 30s and 40s.
"Sometimes it takes tragedy to happen before family members can get identified. And sometimes, like in my family, the tragedy can happen again and again and again until somebody puts it together," she says.
Taking an Active Role
Fortunately, the tragedy appears to have halted with Mimnaugh's aid. Her detective work paid off for her father, the only tall person left in a generation full of early deaths, who underwent open heart surgery to prevent death from aortic rupture in 1988. Since then, she has made the diagnosis in several other family members as well.
While the majority of those with the syndrome have a family history, an estimated 30 percent have no such background, which can further complicate early detection. Experts say this is where concerned individuals can play a vital role in their own, as well as their child's, health.
"Unfortunately, there are many physicians who are unfamiliar with Marfan syndrome or simply don't make the connection," says Dietz. "We have to get the word out to better educate both parents and physicians. Parents also need to feel empowered, they need to know that they are the advocate for their child and if there is something they don't understand or if they are not getting a good answer from their family doctor, they should pursue it."
The bottom line is that with early detection, treatments are available to help reduce the burden created by weak connective tissue on the heart.
"First people are started on a medication [known as a beta blocker] that decreases the heart rate, and also decreases the force with which the heart pushes blood out into the aorta," says Dietz. "It won't stop the abnormal growth, but it will slow it down."