|Robert I. White Jr., professor of diagnostic radiology, and Douglas A. Ross, professor of surgery, are both members of Yale’s multidisciplinary HHT team. About 150 people gathered in the Anlyan Center auditorium last Saturday to attend the HHT Foundation International’s regional conference.|
|Ana Maria Chiesa traveled from Buenos Aires, Argentina, to attend the conference. She and her father and brother all have been treated by physicians at the Yale HHT center. “I feel very comfortable with this team,” she said. “I feel like we have someone who really knows us and understands what we have. That’s very important to me.”|
|Nicola Signorile, left, with Deborah Proctor, professor of medicine (digestive diseases). Signorile, who is from Bari, Italy, attended the conference to thank Proctor and other members of the Yale HHT team for all their help in treating his condition. His daughter and grandchildren also have HHT, and he hopes to bring them to the next international conference.|
|Visitors to the conference received important information about the diagnosis and treatment of the disease and had a chance to talk with physicians and other patients. Faculty presenting at the event included cardiologist Lawrence Young and genetic counselor Katharine Henderson.|
|Photos by Henry Douglas and Claire Bessinger|
Nosebleeds are the most common symptom of HHT, a rare, sometimes life-threatening genetic disorder of the blood vessels. Yale doctors are helping families worldwide cope with this often-misunderstood ailment.
[October 2007] The Hereditary Hemorrhagic Telangiectasia (HHT) Foundation International, which Professor of Diagnostic Radiology Robert I. White Jr. helped found in 1990, held its northeastern regional patient and family conference at the Yale School of Medicine on Saturday. A total of 150 patients from as far away as Argentina and Italy attended the event, which provided patients with information and an opportunity to network with physicians and other patients with the disease.
“They all know they have HHT, but they don’t know about the treatments, nor, in some cases, do their doctors,” said White of the conference attendees. “When you have something a bit unusual, you need information.”
HHT is an uncommon and potentially fatal genetic disorder of the blood vessels. Between 50,000 and 100,000 Americans have HHT, but most cases go undiagnosed. Mild to moderate nosebleeds are the most common symptom of HHT, but about 40 percent of those with HHT also have arteriovenous malformations—defects in larger blood vessels of the gastrointestinal tract, liver, lungs and brain. These malformations usually have no symptoms and can cause stroke or sudden death if they rupture.
About 10 percent of people with HHT die prematurely or are disabled due to complications of their vascular malformations. Such outcomes are preventable by early diagnosis, treatment and follow-up, but most patients are largely asymptomatic before their first serious complications.
White called Saturday’s conference a “great success,” and he said he hopes to host similar gatherings at Yale every other year.
White has helped create 19 HHT Centers of Excellence across the United States and in Europe and Japan. These centers are based on a successful model for the interdisciplinary management of HHT pioneered at Yale.