Treatment Programs

Hereditary Hemorrhagic Telangiectasia (HHT) Center

The Mass General HHT Center offers compassionate, family-centered multidisciplinary care. We strive to create an “HHT medical home” by offering a wide range of specialists, education and treatments while working with a person’s primary care provider.

Meet the Team

Co-Directors:

Genetic counseling:

Diagnosing HHT

  • Individual and family history, especially nosebleeding
  • Focused examination, especially telangiectases
  • Review of HHT Clinical Guidelines
  • Consideration of DNA-based testing
  • Genetic counseling

The Mass General HHT Center offers diagnosis, genetic counseling, multidisciplinary evaluations, and care coordination for people with this common (1/5000) genetic condition.  Our team works with a person’s primary-care provider to identify specialty care needs to improve outcomes.  We strive to create an “HHT medical home” while offering a wide range of specialists, treatments and education for the patient and their family.

About this program and our multidisciplinary team

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Rendu-Weber Syndrome, often results in nosebleeds and other bleeding problems throughout the body. The Mass General HHT Center emphasizes the importance of the first step of making the correct diagnosis. We provide confirmatory genetic testing, genetic counseling, obtain multidisciplinary evaluations, and coordinate specialty care.  Our team works with a patient’s primary-care provider to identify specialty needs, which improve care and outcomes.

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

Dr. Angela Lin coordinates care and makes referrals to the appropriate specialists. Patients who are being followed by outside providers have this information integrated into their care plan.

Our services

  • Medical Genetics, Genetic Counseling
  • Otolaryngology
  • Radiology: Diagnostic, Vascular Interventional, CT, Neuroradiology
  • Hematology
  • Gastroenterology
  • Pulmonology
  • Cardiology, Vascular Medicine
  • Neurology
  • Neurosurgery
  • Dermatology, laser surgery
  • Palliative care
  • Obstetrics-gynecology
  • Surgery, pediatric surgery

HHT affects many parts of the body and affected people can present with various symptoms or conditions.

  • Nosebleeds (epistaxis)
  • Anemia (iron deficiency)
  • Telangiectases
  • Migraine headaches
  • Stroke
  • TIA
  • Pulmonary hypertension
  • Chest pain
  • GI bleeding
  • Juvenile polyps
  • Anxiety
  • Depression
  • Weight loss

Organizations and websites

The HHT Foundation International, Inc. is the leading disease specific advocacy group for HHT. As their website notes, “HHT is an inherited disease that affects over 1 million people worldwide. It is characterized by defective blood vessels in the brain, lungs, liver, nose, skin, and intestines, and typically begins with nosebleeds during childhood. HHT is highly treatable but can result in serious health problems if not promptly diagnosed and treated.”  http://hht.org/

Research articles and opportunities

Refer to the HHT Foundation website tab, “Resources”, for PDFs of scientific articles

“Counting HHT, as Simple as 448.0”. Angela Lin, MD
http://www.hht.org/docs/2013v2-ICD_Code_448.0.pdf

HHT in GeneReviews, Jamie McDonald and Reed Pyeritz, January 2012.
http://www.ncbi.nlm.nih.gov/books/NBK1351/

Many of our individual staff have published scientific articles related to many aspects of HHT. This can be accessed through their Mass General biographies which provide links to PubMed searches.

Patient information

We provide an extensive number of articles and brochures for patients at the time of their visit.

Understanding HHT

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that affects blood vessels. This handout will discuss HHT, the causes and signs of HHT, how doctors test for it and how doctors diagnose it.

Research of Angela E. Lin, MD

In addition to practicing clinical genetics at MGHfC, I conduct clinical research in the field of birth defects surveillance. Since 1997, I have been the clinical geneticist consultant to the Massachusetts Department of Public Health Birth Defects Monitoring Program (BDMP).

Understanding HHT

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that affects blood vessels. This handout will discuss HHT, the causes and signs of HHT, how doctors test for it and how doctors diagnose it.

Make an Appointment

Contact our patient services coordinator to schedule an appointment with our HHT specialists.

patient

Family-centered care

We respect that the family is the center of a child’s life and we welcome families to participate in every aspect of their child’s care.