Marfan syndrome is best known in the United States as the suspected cause of Civil War President Abraham Lincoln's gangly build. For thousands of Americans, the genetic disease means living with the threat that their largest artery could suddenly burst and kill them.
New research is sparking hope that a popular blood-pressure drug might finally protect them. The studies published Friday involve only mice, but the drug Cozaar worked so well that the government is about to test it in babies and children with Marfan the first medicine thought possibly to block the disease's deadly twist.
"This breakthrough is so full of promise that people have chills," said Carolyn Levering, president of the National Marfan Foundation, which helped pay for the research at Johns Hopkins University.
"We're now talking about the ability to prevent rather than attentuate or respond to manifestations of this disease," said Hopkins' lead researcher, Dr. Harry Dietz. "That's what makes this particularly thrilling."
The work not only sheds crucial new light on Marfan syndrome, but it might also point to ways to prevent more common aortic aneurysms, weak spots on the body's largest artery that can kill within minutes should they burst.
Some 30,000 Americans are estimated to be diagnosed with Marfan syndrome, and some specialists suspect an equal number do not know they have the genetic disorder. It is a disease of connective tissue, the body's scaffolding patients typically are tall and thin, with disproportionately long arms, legs, fingers and toes, plus a variety of skeletal, eye, lung and heart problems.
The life-threatening complication is a dangerous weakening of the aorta. Marfan occasionally makes headlines when an undiagnosed, seemingly healthy young athlete suddenly collapses from a burst aorta. Diagnosed patients who show signs of aorta trouble often are told not to exercise too vigorously and to avoid stressing the artery, and they may undergo repeated surgeries to patch it, reports AP.
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