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UPMC-University of Pittsburgh Named Center of Excellence for Rare Disorder

A UPMC and University of Pittsburgh Schools of the Health Sciences clinical and academic partnership has earned international recognition as a premier center for treatment of and research into hereditary hemorrhagic telangiectasia (HHT), a rare genetic disorder that can cause sudden, catastrophic internal bleeding and stroke.

Cure HHT, previously known as The HHT Foundation International, has designated the UPMC-Pitt partnership an HHT Center of Excellence. This designation means that UPMC and Pitt meet the rigorous criteria that Cure HHT – the only worldwide advocacy and support group for the condition – requires in order to refer patients for care.

“This designation is the result of years of building our expertise to provide the multidisciplinary care required by most HHT patients,” said Mark T. Gladwin, M.D., chair of medicine and Dr. Jack D. Myers Professor of Internal Medicine and director of the Vascular Medicine Institute, all at Pitt. “We are honored to be an HHT Center of Excellence and excited to continue the care we already offer HHT patients, while expanding that care to new patients.”

“Our team was truly impressed with UPMC’s strong group of specialists, nurses, geneticists and medical professionals who are able to screen, treat and manage adults and children with HHT,” said Marianne Clancy, executive director of Cure HHT. “The integration of the Pitt HHT research center with the UPMC clinical center will advance therapies as we strive for a cure.”

HHT affects approximately 1 in 5,000 people and is characterized by abnormal blood vessels. Normally, very small blood vessels called capillaries connect an artery to a vein. This forces the blood, which is under high pressure in an artery, to slow down while passing through tiny capillaries before reaching the vein. In people with HHT, the artery may connect directly to the vein, creating a fragile site that blood under high pressure can tear, resulting in massive internal bleeding.

These vascular malformations can form anywhere in the body. Most often they occur on the skin or in the nose. As such, characteristic telangiectases (vascular malformations) on the skin and excessive nosebleeds are frequent findings in patients with HHT. These malformations are most problematic when they happen in the lungs, brain, liver or digestive tract where they can cause life-threatening complications. For this reason, it is important to identify patients with HHT so that they can be screened for these high-risk malformations and, if necessary, have procedures to keep their vessels from bleeding.

“Rare diseases, including HHT, can cause immense suffering and death, and collectively account for over 360 million cases worldwide – on par with diabetes and dwarfing cancer. However, these diseases often do not support the blockbuster mentality of drug development, and the research efforts that do exist are done largely piecemeal and in a nonintegrated manner,” said Dietrich Stephan, Ph.D., chair of the Department of Human Genetics at Pitt’s Graduate School of Public Health. “With the partnership formed in earning the Cure HHT designation, our academic scientists will work directly with doctors, patients and industry to develop early diagnostic tests and, ultimately, a cure.”

Beth Roman, Ph.D., assistant professor of human genetics at Pitt Public Health, is research director for the new center. Her laboratory research uses zebrafish, which form blood vessels using the same molecular cues that guide mammalian vascular development, to uncover biological factors that underlie HHT. Her work has identified abnormalities in the cells that line blood vessels that lead to HHT vascular malformations, an important step in developing a therapy.

Christopher Faber, M.D., director of outpatient services at UPMC’s Comprehensive Lung Center, is the center’s clinical director. He coordinates a multidisciplinary clinical approach to treating HHT patients.

For example, specialists in otolaryngology, neurosurgery, neurology, pulmonology, gastroenterology, genetics and radiology could all be involved in assessing, monitoring and treating a patient, creating a situation where care in one specialty must complement care provided by another. Other specialists frequently needed in the care and treatment of HHT patients include hematologists, cardiologists, dermatologists and dentists.

Center co-director, Suneeta Madan-Khetarpal, M.D., coordinates a similar team of pediatric specialists at Children’s Hospital of Pittsburgh of UPMC who will care for patients less than 18 years of age.

The UPMC-Pitt HHT Center is the 21st Center of Excellence in North America. According to the foundation, it is important for people with HHT to seek out a Center of Excellence because the designation ensures that specialists work with the disorder on a regular basis and know the signs and symptoms, evaluate the whole body, rather than one organ, and refer patients to additional specialists if necessary. Centers of Excellence also have genetic counselors to help trace HHT through a patient’s family, potentially identifying other family members who might need evaluation.

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About UPMC
A world-renowned health care provider and insurer, Pittsburgh-based UPMC is inventing new models of accountable, cost-effective, patient-centered care. It provides more than $888 million a year in benefits to its communities, including more care to the region’s most vulnerable citizens than any other health care institution. The largest nongovernmental employer in Pennsylvania, UPMC integrates more than 60,000 employees, more than 20 hospitals, more than 500 doctors’ offices and outpatient sites, a more than 2.7-million-member health insurance division, and international and commercial operations. Affiliated with the University of Pittsburgh Schools of the Health Sciences, UPMC ranks No. 13 in the prestigious U.S. News & World Report annual Honor Roll of America’s Best Hospitals. For more information, go to

About the University of Pittsburgh Schools of the Health Sciences
The University of Pittsburgh Schools of the Health Sciences include the schools of Medicine, Nursing, Dental Medicine, Pharmacy, Health and Rehabilitation Sciences and the Graduate School of Public Health. The schools serve as the academic partner to the UPMC (University of Pittsburgh Medical Center). Together, their combined mission is to train tomorrow’s health care specialists and biomedical scientists, engage in groundbreaking research that will advance understanding of the causes and treatments of disease and participate in the delivery of outstanding patient care. Since 1998, Pitt and its affiliated university faculty have ranked among the top 10 educational institutions in grant support from the National Institutes of Health. For additional information about the Schools of the Health Sciences, please visit

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