E. Kentucky site of rare genetic disorder; Marfan Syndrome marked by tallness

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Posted on Sun, Mar. 24, 2002

E. Kentucky site of rare genetic disorder

Marfan Syndrome marked by tallness

By Alford

ASSOCIATED PRESS

PAINTSVILLE -- 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 one of about 200,000 people who have Marfan syndrome, a genetic

disorder that often results in people reaching heights of 6 to 7 feet,

perfect for basketball except that sufferers have a predisposition for

deadly ruptures of the aorta, the main artery carrying blood from the heart.

" I was always the tallest person in my class, from kindergarten on, " said

Page, now 6-foot-4. " People were always trying to get me to join the

basketball team. "

Four years ago, Page was diagnosed with Marfan syndrome. Though the news was

not welcome, he said he considers himself lucky doctors detected it.

" I was fortunate because, for the most part, Marfan syndrome is diagnosed on

the autopsy table, " said Page, 20, a computer programming student in

Paintsville. " That's why I think it's important that all school districts

screen specifically for Marfan. "

Dr. Noonan, former chief of pediatric cardiology at the UK

medical center, agrees.

" Certainly, very tall people who are going to be doing sports should be

evaluated for Marfan syndrome, " she said. " I'm sure there are some boys who

are playing basketball who have Marfan syndrome, and who need to be

restricted from competitive sports. "

Physicians at the Mud Creek Clinic in Floyd County were the first to suspect

that Page may be suffering from the syndrome 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 before he received a firm diagnosis.

Now, Page wonders how many other teens in the region may be running up and

down basketball courts without knowing they have the disorder.

A question of health

The same question has crossed the mind of others at the University of

Kentucky who deal with Marfan syndrome 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. "

Flo Hyman, the 6-foot-5 star of the 1984 U.S. silver medal-winning Olympic

volleyball team, fell victim to the syndrome during a game in Japan in 1986.

An autopsy found that she died of a ruptured aorta.

Hyman exhibited the most obvious symptom of the disorder, tallness. People

with Marfan syndrome also often have disproportionately long arms and legs,

fingers and toes.

One of Kentucky's most famous natives, Abraham Lincoln, is thought to have

suffered from Marfan syndrome.

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 s 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, " 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 for Marfan syndrome unless the characteristics are

obvious.

If undiagnosed and untreated, people with Marfan syndrome often die in their

late 30s or 40s, Cadle said. With proper treatment, they can live into their

70s.

Treatments include medication such as beta-blockers or surgery.

Many undiagnosed

The National Marfan Foundation estimates that 200,000 people in the United

States have Marfan syndrome, and that tens of thousands of others are

undiagnosed. Researchers don't know why there is a higher incidence of the

condition in Eastern Kentucky.

In addition to tallness, long limbs and loose joints, symptoms of the

syndrome include an indented or protruding chest bone, curvature of the

spine, flat feet, nearsightedness and dislocated lenses.

Two of the most serious problems associated with Marfan syndrome involve the

cardiovascular system. The aorta can widen and rupture, and a heart valve

may malfunction when the heart contracts.

" The heart beats about 100,000 times a day, " said Dr. Brad Keller, chief of

pediatric cardiology at the UK medical center. " Even if blood pressure is

normal, over time the wall of blood vessel stretches and the size of blood

vessel enlarges. "

In visits to pediatric clinics in Eastern Kentucky, Keller said, UK

pediatricians see inordinate numbers of Marfan cases.

Noonan said half the children born to a person with Marfan syndrome will

have the disorder.

" Although parents know this, they continue to produce more children, so the

condition continues, " she said.

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