DNA Test Available Through U Hospital Helps Diagnose People with Rare Blood Vessel Disorder

DNA Test Available Through U Hospital Helps Diagnose People with Rare Blood Vessel Disorder

Feb 17, 2004 5:00 PM

University of Utah Hospitals & Clinics--one of only eight U.S. centers that specializes in diagnosing and treating the hard-to-detect blood vessel disorder HHT--now offers a DNA test to diagnose people at high risk for having the problem.

HHT (Hereditary Hemorrhagic Telangiecstasia), marked by recurring nosebleeds and abnormal blood vessels in the brain, lungs, liver, spine, and gastrointestinal tract, can lead to brain abscesses and strokes. More than 95 percent of people with HHT suffer nosebleeds by adulthood. Lung and brain malformations, usually present at birth, are seen in 30 percent and 10 percent, respectively, of those who have the disorder. Approximately one of every 5,000 people has HHT, which often is misdiagnosed or not diagnosed at all, according to Jamie McDonald, genetic counselor and coordinator of University Hospital's HHT clinic.

"Many patients are unaware they have HHT until they suffer a brain abscess or stroke," McDonald said.

The U's HHT clinic has focused on clinical management of adults with this disorder through preventive lung and brain screening for blood vessel malformations and by evaluating people for anemia. But until now, diagnosing HHT has been difficult in children and infants since the physical signs of the disorder don't become obvious until adulthood. As a result, children with HHT usually aren't diagnosed and don't receive appropriate screening for potential life-threatening abnormalities that can be treated if detected early.

Last month the HHT clinic at University Hospital, in conjunction with the Molecular Genetics Laboratory at ARUP (Associated Regional and University Pathologists), began offering a DNA test that will make it easier to diagnose those high-risk and uncertain cases. The test can confirm HHT by identifying parents or grandparents with a mutation in the gene and then determining which child or grandchild inherited it. This allows preventive screening in only those who have mutations, according to Franklin J. Miller Jr., M.D., professor of radiology at the University of Utah School of Medicine and interventional radiologist at the HHT clinic.

"When brain or lung malformations are detected during screening, we can take action to prevent brain abscesses or strokes," Miller said.

Approximately 20 percent of patients already have suffered a stroke or brain abscess, usually from a lung malformation, by the time they visit the University's HHT clinic, McDonald said. She estimates that 100,000 people nationwide and as many as 1 million worldwide have HHT.

For more information on the University Hospital HHT clinic, or the DNA test, call Tiwanda Horace at 818-581-8188. The HHT Foundation International also has a Web site at www.hht.org, which offers detailed information about the disorder for both patients and physicians.

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