UCSF Named Center of Excellence for Hereditary Hemorrhagic Telangiectasia

by UCSF Department of Radiology Team on June 4, 2014

As Northern California’s only facility that specializes in the diagnosis and treatment of hereditary hemorrhagic telangiectasia (HHT), UCSF has been named a Center of Excellence by the HHT Foundation International, Inc. Being designated as a Center of Excellence means that UCSF’s standard of care either meets or exceeds the guidelines recognized by the HHT Foundation. The UCSF HHT Center of Excellence was founded by three members of the Department of Radiology & Biomedical Imaging: Miles Conrad, MD, MPH, Steven Hetts, MD, and Melissa Dickey, NP.

HHT is a genetic disorder of the blood vessels that affects approximately one in 5,000 people.  The disorder is also referred to as Osler-Weber-Rendu Syndrome.  HHT is caused by a mutation in one of several HHT-associated genes.  HHT is autosomal dominant, which means that if one of your parents or a sibling has HHT, there is a one in two (50 percent) chance that you will have HHT.

HHT genetic mutations lead to development of abnormal blood vessels that tend to be very fragile and can bleed.  An abnormal blood vessel that involves a small blood vessel is called a telangiectasia and most commonly occurs on the face, hands, fingers, and the lining of the nose and mouth.  The telangiectasias on the lining of the nose cause recurrent nosebleeds, the most common symptom of HHT.  Telangiectasias can also occur in the digestive tract, particularly in the stomach and small bowel.

An abnormal blood vessel that involves a larger blood vessel is called an arteriovenous malformation, or AVM.  AVMs can occur in one or more organs such as the brain, lungs, and liver, which can lead to serious complications.  Screening tests are available to detect AVMs.  If discovered, there are multiple minimally-invasive treatment options that are safe and effective.

There are numerous benefits to being screened at an HHT Center, but two of the most important are help with tracing the patient’s genetic history of HHT and guidance for the referring physician.  After a patient has been seen at the UCSF HHT Center of Excellence, the referring physician can contact UCSF HHT specialists about the patient’s specific condition and discuss such matters as treatment recommendations, second opinions, and clarifications of diagnosis and management options.

Due to the rarity and complexity of HHT, treatment requires coordination among multiple medical specialists.  The UCSF HHT Center of Excellence includes a coordinated team of nationally recognized and specially trained physician experts from multiple subspecialties.  Because HHT symptoms can affect various parts of the body often early in a patient’s life, our team consists of experts in the fields of Interventional and Neurointerventional Radiology, Pediatrics, Medical Genetics, Hematology, Otolaryngology/Head and Neck Surgery, Cardiology, Dermatology, Gastroenterology, Neurology, Neurological Surgery, and Pulmonology.  Team members all have extensive knowledge about HHT and take a comprehensive approach to the screening, diagnosis, and treatment of HHT.

The UCSF HHT Center of Excellence provides:

  • Patient education and proactive management of the symptoms and complications of HHT.
  • A state-of-the-art medical center and children’s hospital, as well as clinics where high-quality patient care is delivered.
  • World-renowned interventional and neurointerventional radiology treatment facilities where minimally-invasive treatment options are available.
  • Physicians who have pioneered many of the devices and treatments used for the treatment of AVMs.

UCSF’s HHT Center of Excellence is associated with the Center for Cerebrovascular Research (CCR), a core group of faculty and staff pursuing integrative and interdisciplinary study of cerebrovascular disease, with a focus on vascular malformations of the brain.  The CCR has a special interest HHT, which is one of the few inherited causes of brain AVM.

HHT patients will benefit from the resources at UCSF’s Pediatric Brain Center, which will be part of the UCSF Benioff Children’s Hospital when it opens on UCSF’s Mission Bay campus in early 2015.

The UCSF HHT Center of Excellence is located in San Francisco at 2330 Post Street, Suite 100, near UCSF Medical Center at Mount Zion.

Click here for information about referrals and scheduling.

{ 2 comments… read them below or add one }

Lisa June 8, 2014 at 2:26 pm

HHT runs in my family. My grandmother, aunt and uncle struggle with it daily. My son has a large venomous malformation in his forearm. I have often wondered if they were related. I have taken my son to the hematology oncology clinic at UCSF. I’m just wondering if he should be tested for HHT.

Reply

Matt June 18, 2014 at 6:08 pm

Since your son does not yet carry a diagnosis of HHT, you may wish to be evaluated in the Birthmark and Vascular Anomalies Clinic. Be sure to mention the family history and question.

http://www.bvac.ucsf.edu/Appointments/

Regards

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