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Syndrome makes people tall, skinny, but can shorten life
PAINTSVILLE, Ky. -- Bobby Page grew up tall and thin, with joints so flexible he could impress his friends by twisting his feet around or bending his thumbs back against his wrists.
It never occurred to him that those traits were the symptoms of a life-threatening condition that University of Kentucky doctors say may be more common in the state's mountain region than anywhere else in the world.
Page is among 56,000 people nationwide who suffer from Marfan syndrome, a genetic disorder that affects connective tissue, the basic substance that holds together blood vessels, heart valves, cartilage, tendons and other structures. It is believed thousands more go undiagnosed.
The disorder often results in people reaching heights of 6 feet to 7 feet. The height advantage may be perfect for basketball, but sufferers have a predisposition for deadly ruptures of the aorta, the heart's main artery. And aorta rupture is more likely during active sports.
Page, now 6-foot-4, was always the tallest person in his class, even in kindergarten. "People were always trying to get me to join the basketball team," he said.
Diagnosis usually late
Four years ago, he was diagnosed with Marfan syndrome, the result of a chromosome mutation. Though not welcome news, he said he considers himself lucky that doctors detected it.
"I was fortunate because, for the most part, Marfan syndrome is diagnosed on the autopsy table," said Page, a 20-year-old computer programming student at Kentucky Tech in Paintsville. "That's why I think it's important that all school districts screen specifically for Marfan."
Dr. Jacqueline Noonan, former chief of pediatric cardiology at the University of Kentucky medical center, believes tall students who plan to participate in a sport should be evaluated for Marfan.
"I'm sure there are some boys who are playing basketball who have Marfan syndrome, and who need to be restricted from competitive sports," she said.
Researchers at the Johns Hopkins University School of Medicine estimate that the disorder affects 1 in 5,000 people. One of those researchers, Dr. Reed Pyeritz, now a professor of cardiology and pediatrics at the Medical College of Pennsylvania, said the estimate is simply a "best guess" based on the number of Marfan cases in the population.
Physicians from the University of Kentucky based their conclusions about a higher-than-usual number of cases in the mountain region on an inordinate number of children being diagnosed at local clinics. Noonan said she believes the reason for more cases in eastern Kentucky is that people here have larger families, which allows more people to pass the disorder on to their children.
Half the children born to a person with Marfan syndrome will have the disorder. "Although parents know this," Noonan said, "they continue to produce more children, so the condition continues."
The disorder was first discovered in 1896 by a French pediatrician, Antoni Bernad Jean Marfan. He documented the clinical signs of a 5 1/2-year-old girl with long, thin limbs.
People with Marfan syndrome often have disproportionately long arms and legs, fingers and toes, and suffer from loose joints. Symptoms can include an indented or protruding chest bone, curvature of the spine, flat feet, nearsightedness and dislocated lenses.
Early death possible
If undiagnosed and untreated, people with Marfan often may die in their late 30s or 40s. With proper treatment, including medication such as beta-blockers, or surgery, they often live into their 70s.
Dr. Alan Braverman of St. Louis was in medical school when he heard a heart murmur while examining his brother. That led to a diagnosis of Marfan syndrome, which the family and doctors soon realized was what killed Braverman's father at age 47. Braverman's brother, at 42 and after two heart surgeries, survives because he was diagnosed.
However, Allen Larson's son, the playwright Jonathan Larson, gained world fame for the Broadway musical "Rent" only after Marfan took his life at age 35.
Braverman and Larson are working for a campaign by the National Marfan Foundation to bring widespread attention to the disorder. Their biggest task is to educate emergency rooms on how to spot the syndrome.
Flo Hyman, the 6-foot-5 star of the 1984 U.S. silver medal-winning Olympic volleyball team, fell victim to the disorder during a game in Japan in 1986. An autopsy found that she died of a ruptured aorta. Hyman's height was the most obvious symptom of the disorder, which also was believed to afflict one of Kentucky's most famous natives, Abraham Lincoln.
Physicians at the Mud Creek Clinic in Floyd County were the first to suspect that Page may be suffering from the disorder when he came in complaining of joint pain and fatigue. Although he exhibited most of the physical traits of the disorder from childhood, he was 16 years old before an accurate diagnosis was made.
Page wonders how many other teens may be running up and down basketball courts without knowing they have the disorder.
The same question has crossed the mind of others at the University of Kentucky Medical Center who diagnose Marfan syndrome on a regular basis in clinics throughout the state's eastern hills.
"A person who has this shouldn't be playing football or basketball," said Ron Cadle, senior genetic counselor at Kentucky's Chandler Medical Center pediatrics department. "Such sports can be deadly."
Many in Kentucky
Cadle said eastern Kentucky is known for a high incidence of Marfan syndrome and was the location for a 1986 study that helped researchers from the University of Kentucky and Johns Hopkins identify the gene that leads to the disorder.
"From that, we now know what causes Marfan, but we're still a long way from a cure, gene therapy or anything as exotic as that," Cadle said.
Cora Sturgill, a school nurse in Letcher County, said the instances of Marfan syndrome were obvious.
"We had these really tall students with heart problems and vision problems," she said. "We were getting one, then two, then three, and that alerted us that something was going on."
Sturgill said all students in Kentucky are required to undergo physical exams before they can play in school-sponsored sports. But, she said, they are not evaluated specifically for Marfan syndrome unless the characteristics are obvious.