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About the Program

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Rendu-Weber Syndrome, is an inherited disorder in which some blood vessels do not develop properly, and often results in nosebleeds and other bleeding problems throughout the body. The Mass General HHT Center offers diagnosis, genetic counseling, multidisciplinary evaluations and care coordination for people with this common (1/5000) 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.

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

Josanna Rodriguez-Lopez, MD, director 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

We work with a range of specialties to provide the best care.
  • Pulmonology
  • Medical genetics and genetic counseling
  • Otolaryngology
  • Radiology: diagnostic, vascular interventional, CT, neuroradiology
  • Hematology/hepatology
  • Gastroenterology
  • Cardiology, vascular medicine
  • Neurology
  • Neurosurgery
  • Dermatology, laser surgery
  • Palliative care
  • Obstetrics-gynecology
  • Surgery, pediatric surgery

Research

In attempts to better understand HHT and develop new, effective treatments, we are involved in many research studies. You may have the opportunity to participate in one of these cutting-edge studies. Your participation is, of course, completely voluntary and your decision regarding enrolling in a study will, in no way, affect the care you receive from us.