Hereditary Hemorrhagic Telangiectasia (HHT) Center

About the Program

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is the second most common inherited bleeding disorder in the U.S. and worldwide, with a prevalence twice that of hemophilia. In HHT, some blood vessels do not develop properly, which results in nosebleeds and other bleeding problems throughout the body. Additionally, complications of abnormal blood vessels (arteriovenous malformations or AVMs) can cause other complications, particularly in the lungs, brain, liver, and heart. The Mass General HHT Center offers diagnosis, genetic counseling, advanced and cutting-edge therapies, multidisciplinary evaluations and care coordination for people with this common (1 in 5000) genetic condition, and emphasizes the importance of the first step of making the correct diagnosis. We strive to create an “HHT medical home” while offering a wide range of specialists, treatments and education our patients. The Mass General HHT Center is recognized worldwide for our clinical and research excellence, and is certified an HHT Center of Excellence by the Cure HHT Foundation.

Our center includes Mass General, Mass General for Children, and Massachusetts Eye & Ear. This collaboration allows us to provide specialized care across the lifespan.

Josanna Rodriguez-Lopez, MD and Hanny Al-Samkari, MD, Directors of the Mass General HHT Center, and the rest of our team provide a multidisciplinary approach to tackle all aspects of the condition.

Diagnosis of HHT

Diagnosis of HHT includes:

• Individual and family history, especially a history of nosebleeds
• Focused examination, especially telangiectasias, (i.e. the appearance of dilated or broken blood vessels near the surface of the skin or mucous membranes)
• Review of HHT clinical guidelines
• Consideration of DNA-based genetic testing
• Genetic counseling
• Referral to other HHT subspecialists

Our Services

Research

To better understand HHT and offer new treatments, we are involved in many research studies. The Mass General HHT Center is home to the largest and most active HHT clinical trials program in the United States, hosting trials funded and/or sponsored by the National Institutes of Health, U.S. Department of Defense, and pharmaceutical industry. You may have the opportunity to participate in one of these cutting-edge studies, which offer new and promising therapies to treat bleeding, anemia, and other HHT manifestations. The Mass General HHT Center is also the home of the Mass General-Broad Institute Hereditary Hemorrhagic Telangiectasia Biobank, a first of its kind tissue repository comprised of voluntary blood and tissue samples from patients with HHT that will be instrumental in advancing our understanding of this serious disease. Your participation in clinical trials and/or the biobank is completely voluntary and your decision regarding enrolling in a study will in no way affect the care you receive from us.

For interest in new medical treatment options in HHT, please schedule an appointment with Hanny Al-Samkari, MD, in hematology, and inform the scheduler you have HHT and would like to be evaluated for a clinical trial of a new treatment. For interest in participation in the Mass General-Broad Institute HHT Biobank, please schedule an appointment with Hanny Al-Samkari, MD, in hematology or Josanna Rodriguez-Lopez, MD, in pulmonary.

Other members of the multidisciplinary HHT Center team:
Pulmonary

Alison Witkin, MD

Alexandra Wong, MD

Genetics

Angela Lin, MD (Pediatrics)

Ashley Wong, MS, CGC (Genetic counselor)

Hematology

David Kuter, MD, DPhil
Pamela Hodges, NP, MPH, PhD

ENT

Eric Holbrook, MD

Stacey Gray, MD

Benjamin Bleier, MD, FACS

Ralph Metson, MD

Nicolas BuSaba, MD, FACS

Interventional Radiology

Raymond Liu, MD

Sanjeeva Kalva, MD, MBBS

Zubin Irani, MD, MBBS

Omar Zurkiya, MD, PhD

Hepatology

Jay Luther, MD

Neurology

Mingming Ning, MD, MMSc

Patricia Musolino, MD, PhD

Pediatrics

Bernard Kinane, MD

Eric Grabowski, MD, SCD

Dermatology

Oon Tian Tan, MD, PhD