A treatment center at the School of Medicine specializes in a disease that could be the basis of a medical mystery. First, there's its evocative tongue-twisting name: hereditary hemorrhagic telangiectasia (tel-AN-gee-ek-tay-zha), which everyone shortens to HHT. Then there's its varied and potentially misleading set of symptoms such as nosebleeds, back pain, anemia, or strokes.
In fact, unusual attributes like these earned HHT a starring role on the popular TV series, “House, MD,” in which a brilliant doctor solves baffling medical cases. In the 2007 episode, a Gulf War veteran plagued with fatigue and joint pain develops spreading paralysis and nears death. Racing against time, House suspects parotid cancer, brain tumors and radiation exposure before realizing the former Marine has HHT.
In reality, an estimated one in 5,000 people in the United States has HHT. And while physicians at the HHT Center don’t face a “House, MD” level of drama with all their HHT patients, they do know why HHT might be one of the last things that occurred to the fictional doctor.
“Most doctors don’t know this disease — they hear about it once in medical school and never encounter it again,” says Murali Chakinala, MD, co-director of the HHT Center along with Andrew J. White, MD. “Many people with HHT have mild symptoms and go through most of their lives without realizing they have the disease.” White adds, “HHT is a fairly common disease, and yet no one has ever heard of it.”
The School of Medicine’s HHT Center started nearly 20 years ago with one patient who met two Washington University physicians who had heard of the disease. Cathy Goforth was treated for her HHT by Daniel D. Picus, MD, professor of radiology, and former colleague Daniel M. Goodenberger, MD. Goforth’s case spurred them to create a specialized center for the disorder.
Since 2006, the HHT Center, one of just 10 in the country, has been co-directed by Chakinala, associate professor of medicine in the Division of Pulmonary and Critical Care Medicine, and White, associate professor of pediatrics in the Division of Pediatric Rheumatology.
Because of HHT’s wide range of symptoms, the HHT Center includes specialists in pulmonology, pediatrics, otolaryngology, radiology, neurosurgery, genetics, cardiology, gastroenterology, hematology and dermatology.
“With new patients, we put them through a core set of scans to detect abnormal blood vessels in the chest, abdomen and brain,” Chakinala says. “We identify problem areas, treat current symptoms and work to avoid future problems.”
With nosebleeds being a predominant symptom, Jay F. Piccirillo, MD, professor of otolaryngology, sees many of the center’s patients. “The turbulent air flow in the nose can lead to dryness and irritation that stimulate bleeding,” he says. “Some people’s nosebleeds are so extreme that they need regular iron or blood transfusions.”
Depending on severity and frequency, Piccirillo recommends moisturizing sprays or creams, cauterizes abnormal vessels or injects a scarring agent to close them, or replaces the nasal lining with skin from another part of the body.
The center regularly performs procedures on the lungs as well. Sections of lung with arteriovenous malformations (AVMs) can be surgically removed, but Picus often employs pulmonary embolization to block affected blood vessels and then reroute blood to healthy vessels.
For AVMs in the brain, an interventional neuroradiologist on the HHT team might use a similar procedure. Malformations near the brain’s surface, however, usually respond best to a surgical approach. A third option is to shrink the abnormal vessels with radiation.
Medications can manage heart failure caused by liver AVMs, and in severe cases, liver transplantation may be needed.
In addition to treatment, the HHT Center strives to improve understanding of the disorder. As part of a multi-center trial through the National Institutes of Health (NIH), the center’s researchers are investigating various factors, including genetic factors, that contribute to complications in patients with brain arteriovenous malformations.
Awareness of the disease within families is vital, and screening for HHT mutations leads to earlier diagnosis and treatment. The HHT Center is assisting the HHT Foundation International in hosting its National Patient and Family Conference this October. The event will bring together specialists with the goal of providing education and support for affected patients and families.
HHT specialists also would like to increase knowledge of the disease among physicians, especially those in emergency medicine, otolaryngology and pediatrics who can play an important role in first identifying patients with HHT.
The center’s directors believe patients benefit greatly from receiving care at an HHT treatment center throughout their lives. The disease can never fully be cured because new artery-to-vein connections can manifest anytime.
“HHT ages with you — you can be diagnosed at age 10, and by the time you are 60, your disease will be radically different,” says Chakinala. “In addition to getting the best care, HHT patients who come to a center like ours learn more about their disease, and they can connect to an entire community of HHT patients.”