Domingo didn’t want to go to yet another doctor. He’d had it.
They never believed him when he described his weird and extremely painful swelling episodes. When he was a kid, he and his parents had gone to so many disappointing doctors’ appointments that he’d grown to hate everything about the process. The waiting rooms that all looked alike. The sound of the glass partition sliding back and forth as receptionists booked patients in. The skepticism in the physician’s eyes as Domingo described his symptoms. For so long he’d gotten his hopes up only to have them dashed. He was convinced he’d never find out what was wrong with him—and half-convinced he was going nuts.
What he didn’t know was there was a mecca waiting for him… In the fall of 2014, the University of California – San Diego Health system, in partnership with the advocacy group called the Hereditary Angioedema Association (HAEA) opened a research and treatment clinic primarily focused on hereditary angioedema (HAE) and other serious swelling disorders.
So what is HAE?
HAE is a rare genetic disorder that affects about one in 50,000 to 150,000 individuals worldwide. HAE causes severe, in some cases life-threatening, swelling anywhere in the body.
Though “Domingo” isn’t a real person, his story demonstrates the difficulties faced by many people with HAE. In other cases, members of a family may have been diagnosed with HAE before treatment was available. They may see their swelling as “just something our family has to deal with.” Many people with HAE go undiagnosed or untreated their whole lives.
The U.S. HAEA Angioedema Center at UC San Diego aims to change all that. The center offers:
- “Comprehensive, holistic” approaches to angioedema in all its forms, which includes HAE
- An emphasis on the importance of educating patients, families and the medical community about angioedema
- Innovative options in angioedema diagnosis and management
- Expert consultation services for physicians
- Clinical trials
- Groundbreaking basic research, as well as research that aims to translate that basic research into medical and nursing practice and, ultimately, into meaningful health outcomes (called “translational research”)
- Consultations on both U.S. and international angioedema cases
The Center brings together internationally known specialists to conduct cutting-edge research and care that’s aimed at helping people living with HAE live better.
And that help is needed. A 2010 web survey reported on in the medical journal Annals of Allergy, Asthma & Immunology, assessed the economic burden associated with acute attacks and long-term management of HAE. Medical costs were estimated at $42,000 annually for the average HAE patient. Additionally, people reported high rates of missed work, lost productivity, and lost income, contributing to indirect costs totaling $16,000 annually for the average patient.
And that’s after diagnosis. People with HAE often go years, sometimes decades before being correctly diagnosed. “The disease may be misdiagnosed as a food or medication allergy, a bowel disorder or a gynecological condition, leading to unnecessary surgeries or even death if a patient has a swelling attack in the throat,” said Marc Riedl, MD, associate professor of medicine and the Center’s clinical director.
At U.S. HAEA Angioedema Center at UC San Diego, physicians take a comprehensive look at the patient—including their lifestyle and circumstances—in order to create a personalized treatment plan. “This may mean selecting medications or modifying other factors in their life,” said Riedl, “but what we really want is to optimize care so people can get back to their normal lives as much as possible.”
At the same time as the Center is busy diagnosing and treating people with HAE, its researchers are working on developing a cure. They’re investigating gene therapy and ways to improve “the intrinsic production of the C1-inhibitor protein that’s missing in hereditary angioedema, though this is a ways off,” Riedl added.
In other words, the center is offering hope to people who, like our fictional friend Domingo, despaired of ever finding the answers that would help them feel sane and enjoy their lives.
The new U.S. HAEA Angioedema Center is located at 8899 University Center Lane in University Towne Center. Appointments may be made by calling 800-926-8273.
