Imagine having a gushing nosebleed that lasts for hours — one that’s so bad you have to visit the emergency room to have your nose packed or get a blood transfusion. Situations like this are all too common for people who have Hereditary Hemorrhagic Telangiectasia (HHT).
The genetic disorder, which causes some blood vessels to develop abnormally, affects one out of every 5,000 people and can be life-threatening. “Malformed arteries in the lungs and brain put patients at risk of stroke, hemorrhage and brain abscess,” says Justin McWilliams, MD, an interventional radiologist who co-directs the HHT Center at UCLA along with fellow interventional radiologist Gary Duckwiler, MD.
“Because HHT isn’t widely known among the general public, or even among many healthcare providers, it often takes years to establish the diagnosis,” says Dr. McWilliams.
Increasing HHT awareness is one of the Center’s goals. “If we can diagnose the disease early, we can treat the abnormal vessels before they cause serious complications.” Treatment can include a catheter embolization to block off abnormal blood vessels, or less commonly, surgery or radiation therapy,” explains Dr. McWilliams
The HHT Center at UCLA opened five years ago and is one of only 18 national Centers of Excellence recognized by the HHT Foundation. “UCLA received this designation because our multidisciplinary team is extremely knowledgeable in HHT management and treatment,” says Dr. McWilliams.
June is National HHT Awareness month, and Dr. McWilliams will be presenting a Medicine Grand Rounds on diagnosis and management of the disease. “It’s my hope that, one day, HHT will be as widely known as another genetic disease that once got little attention: cystic fibrosis,” says Dr. McWilliams. “This will help lead to faster diagnosis and treatment.”