MARFAN SYNDROME A DISORDER USUALLY DETECTED AFTER DEATH.(Local)

Byline: BARBARA ROWLANDS London Observer Service

Flo Hyman, a 31-year-old American volleyball star, came off the court when she was playing in Japan, sat down on a bench, collapsed and died. Five years later, all volleyball and basketball players are routinely screened for the disorder that killed Hyman in her prime - Marfan syndrome, the "tall people's disease."

Marfan is more common than cystic fibrosis or hemophilia, but is usually only diagnosed at the autopsy. It affects one in 10,000 more - than 25,000 in the United States - but only one in five know they have it. The others are blithely unaware that they could pass the disorder to their children.

Marfan syndrome is an inherited disorder of the body's connective tissue that can result in excessive height, deformities of the spine and chest, loose and double joints, flat feet and, most serious of all, a gradual weakening of the aorta. Without surgery, the aorta or its valves can burst, causing sudden death.

Doctors have known about the syndrome for nearly 100 years, but have only recently discovered its cause. They hope to find a cure within five years. Geneticists will discuss their latest findings at a symposium in San Francisco in early November.

Despite medical advances and the characteristic appearance of someone with Marfan, it is rarely spotted. For years, Sue Hyde, of Worksop, England, dragged her children to doctor after doctor only to be told that she was neurotic.

"We've been pooh-poohed by doctors for years," she says. "That's just what the Hydes look like, they say. Then, in 1984, we had one drop down dead and they had to take notice."

Eight years ago her husband, Nigel, 36, collapsed and died of a ruptured aorta. Six weeks later his father, Allen, was also struck down. The Hydes' son Daniel, 12, daughters Eleanor, 17, and Lucy, 16, already have enlarged aortas. Only 14- year-old Thomas has escaped.

Diane Rust, who runs the Marfan Association in the United Kingdom, a support network for people with the syndrome, says too often diagnosis takes place after death.

"Many GPs don't recognize the symptoms and if they do, they sometimes don't want to label the patient. But if the heart is prone to rupture, then quite often the first time people take it seriously is when someone's died."

She has strong links with the US Marfan Association and has launched the European Marfan Support Network, based in Utrecht in the Netherlands, which already has 11 member countries.

The disorder was first described in 1896 by French pediatrician Antoine Marfan, who described a five-year- old girl whose limbs, fingers and toes were long and thin, whose muscle development was poor and whose spine curved abnormally.

Two years ago, the mutated gene that causes the disorder was isolated, and last year researchers discovered it occurred on the same chromosome as the gene for fibrillin, a fine protein fiber woven into the skin and blood vessels, which gives them their stretch.

If one parent has Marfan there is a 50 percent chance his or her child will have it too. All the children in a family could have Marfan or none at all. Three-quarters of sufferers have inherited the disorder: in the other quarter there is a spontaneous mutation.

Most are tall, and most have long faces, big "spider-like" hands and long, tapering feet. Most are short- sighted with slightly bulging eyes, but not all have the distinctive pigeon chest or distorted spine. Not all have the least obvious, but most dangerous characteristic a weak aorta.

Marfan is eminently treatable if it is spotted. The aorta diameter of both adults and children can be measured annually by echo cardiography. Doctors can prescribe drugs to protect the aorta and surgery can strengthen its wall. In families with several Marfan members, Marfan can be diagnosed genetically from the DNA in blood or skin samples. Pre-natal diagnosis can also be made.

Doctors in the eight countries where research is taking place are confident that they can develop a medicine that will either increase production or decrease the destruction of fibrillin.

But a cure will come too late for those with the "classic" symptoms, for whom life can be a misery, says Dr. Anne Child, a clinical geneticist at St. George's Hospital in London and medical director of the Marfan Trust, which raises funds for research.

Some victims have turned Marfan to their advantage. Composer Rachmaninov drew up chords that only he could span and Abraham Lincoln, now thought to have had Marfan, found his gangly 6-foot 4-inch frame had its uses in Congress and on the battlefield.