Hereditary Hemorrhagic Telangiectasia (HHT)
Cutting-edge Treatment Stops Debilitating Bleeding
For decades, Deb Waller of Brookfield, Wisconsin, suffered from severe, debilitating nosebleeds, caused by a disorder called hereditary hemorrhagic telangiectasia (HHT). The bleeding episodes, sometimes spurred by the simplest things—merely leaning over a plate to eat or bending forward, for instance—were as unpredictable as they were prolonged.
But thanks to cutting-edge treatment from doctors in a new HHT program at Froedtert & The Medical College of Wisconsin, Deb’s nosebleeds have diminished significantly. An innovative therapy of nasal-spray doses of bevacizumab, a cancer drug that restricts blood supply to tumors, spurred the dramatic turnaround. She receives bevacizumab treatments every six to nine weeks.
“I’m doing things I haven’t done for years,” Deb said. “I went to Hawaii recently and could swim and snorkel. It was amazing.”
Rare DisorderHHT affects one of every 5,000 people, mostly Caucasians. It’s caused by a gene mutation that creates malformed blood vessels that lack the structure and durability required to prevent bleeding, said David Poetker, MD, MA, Medical College of Wisconsin otolaryngologist and the program co-director.
“Bleeding can occur virtually anywhere, but certain areas are more prone, such as the nose, lungs, and GI tract,” Dr. Poetker said. “It can be just a nuisance or, in more severe cases, life threatening. It can have a huge impact on quality of life and overall health because victims are often chronically anemic, which puts a strain on the heart. They also get fatigued easily because their blood counts are so low.” Often misdiagnosed, the disease is incurable, but can be managed.
“We can temporarily improve symptoms, but we can’t cure it,” he said.
The disease also is perplexing because it varies in severity from person to person and generation to generation, Dr. Poetker noted. Some people bleed so profusely they require blood transfusions.
“It is passed from parent to offspring, but the severity may vary widely between the two,” he explained. “A parent may have such a mild case they don’t even know they have it, while a child may have a very severe case.”
First-degree relatives have a 50 percent chance of being afflicted with HHT. As such, a correct diagnosis is important so family members can be notified and tested, said William Rilling, MD, Medical College of Wisconsin interventional radiologist and program co-director.
“The HHT Foundation International (www.hht.org) is trying to raise the level of awareness of this disease because there are preventable complications, such as stroke and brain hemorrhage,” Dr Rilling said. “Screening for the disorder is fairly straight-forward: a brain MRI scan to find arteriovenous malformations (AVMs) in the brain and bubble-enhanced echocardiogram study to find AVMs in the lungs. We want to find those and treat them before something catastrophic happens.”
Local Care ContinuumA local HHT program makes sense because primary care providers often aren’t equipped to provide the level of care necessary to manage the disease, said Dr. Poetker, noting that Froedtert doctors already tend to more than two dozen HHT patients.
“A lot of patients in the community bounce around and see doctors who may not know how to care for all aspects of HHT, so receiving coordinated care is a big component,” Dr. Poetker said. “A lot of doctors don’t want to care for HHT patients because it’s hard to manage…there’s no cure. It’s very frustrating for patients and providers.”
“People receive better treatment from specialists,” Dr. Rilling said. “Our center’s multi-disciplinary team includes 15 to 20 different specialists, which is important because the disease’s manifestations are so variable, ranging from a minor nosebleed every couple weeks to organ damage and hemorrhaging. We have the people and expertise in place to handle the entire continuum of the disease.”
In addition, there are only 12 specialized treatment centers nationwide, and the two closest to Milwaukee aren’t exactly conveniently located: one at Washington University in St. Louis, Missouri, and the other at the Mayo Clinic in Rochester, Minnesota. Froedtert & The Medical College of Wisconsin is in the application process to become recognized by the International HHT Foundation as a Center of Excellence.
Moreover, specialized centers can offer therapies that regular physicians cannot, Dr. Poetker pointed out.
“I don’t know of anyone else locally who’s using bevacizumab topically,” he said, noting Deb’s treatment. “Centers are more willing to try new and cutting-edge therapies like bevacizumab, which acts by preventing the abnormal blood vessels from forming.”
Dr. Poetker said the program is applying for grant that would fund a clinical study to prove how well bevacizumab works. If a study shows statistically that bevacizumab works, insurance companies would be more willing to cover the cost of the drug.
Debilitating DiseaseBevacizumab is a life-changing drug for Deb, whose paternal grandmother was diagnosed with HHT in her mid-70s. Deb first started experiencing nosebleeds when she was pregnant with her first child in the mid-1980s and was diagnosed with HHT. Back then, doctors treated the severe nosebleeds with nasal cauterizations; Deb estimates she’s had more than 100 such procedures.
“My doctor thought things would improve after delivery, but they didn’t,” she recalled. “I had cauteries about every three months. Then I got pregnant within a year after our first child, and things got worse. I had nosebleeds just about every day.
“They’d just start and you can’t stop them,” she noted. “It was difficult. You’d be at work and they’d start in. After my second child, I could have up to three or four a day.”
Fearing that too many cauterizations would eventually burn a hole in her nose, Deb’s physician sent her to Boston for laser treatments, which disintegrate malformed blood vessels and leave minimal scarring. From about 1987 to 1994, she traveled to Boston every nine months or so for treatments.
Then she heard that Charles Harkins, MD, FACS, an otolaryngologist at Froedtert & The Medical College of Wisconsin and specialist in the HHT Program, was working with a more specialized laser treatment, as well as chemical cauterizations. Those treatments, however, ran their course by 2009 when Deb ended up with a hole in her nose.
“Things were getting very tough,” she said. “I was having trouble doing even the most basic things. I couldn’t lean over or eat without a nosebleed. I was becoming anemic, too. Sometimes I hemorrhaged so much I needed blood transfusions. We actually talked about sewing my nose shut to stop any airflow and give the nose a rest.
“I kept on working, but I’d come to work with my nose packed,” she added. “I was very careful about what I did and carried a nosebleed kit with me all the time. I knew we had to do something, because I couldn’t keep working and living like that. That’s when Dr. Harkins agreed we could give bevacizumab a try.”
New Lease on LifeInitially, Deb took the drug intravenously, one dose every two weeks over the course of eight weeks, followed by a three-month wait in between treatments. She received those treatments from August 2009 through June 2010. Then she started taking treatments topically via a nasal spray, which eliminates the significant side effects associated with intravenous treatments. The effect was dramatic.
“My life is completely different now,” she explained. “Until you look back, you don’t realize how bad things had become because you just get used to them and carry on. But I can do things now I haven’t been able to do for years, like flying in an airplane, where the dry air and pressure changes could easily start a hemorrhage.”
Deb said she can’t say enough about the quality of the care she receives at Froedtert.
“One reason I’ve been able to carry on is that I’ve always felt there was someone at Froedtert who would help me,” she said. “With this kind of disease, the smallest things can make a difference. I never felt there wasn’t something else we couldn’t try. Dr. Harkins would never say there’s nothing left in his bag of tricks. You couldn’t ask for anything more than that. He kept me going all these years.”
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Last Review Date: July 8, 2011
Online Editor(s): Kathryn Adam