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TREATMENT OF HEREDITARY HEMMORRHAGIC TELANGIECTASIA (HHT)

Adapted from Washington University Outlook, 2010, written by Gwen Ericson, posted August 24, 2011. Refer to the Record, for the full story, illustrations and video.

A treatment center at Washington University School of Medicine - one of just 10 in the USA - 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.

People with HHT suffer diverse health problems, because a number of their arteries connect directly to their veins. The locations of these blood vessel malformations dictate their symptoms. HHT is diverse – the nosebleeds, fatigue and shortness of breath often confuse physicians unfamiliar with the disease. Although it may seem only troublesome early in life, HHT’s effects can become more severe, even life-threatening, as the person ages.

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.

Since 2006, the Center has been directed by Murali Chakinala, MD associate professor of medicine in the Division of Pulmonary and Critical Care Medicine, and Andrew J. White, MD, 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.”

  • Nosebleeds - 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.

  • Arteriovenous malformations ( AVMs) The center physicians regularly performs procedures on the lungs as well. Sections of lung with AVMa) can be surgically removed, but interventional radiologist Daniel Picus, MD 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.

  • Liver AVMs 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. 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.”


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Copyright 2014 Washington University School of Medicine
Copyright 2014 Washington University School of Medicine