What Is Hereditary Hemorrhagic Telangiectasia (Also Known as Osler Weber Rendu Syndrome)?
Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that affects about 1 in 5,000 to 1 in 10,000 people and commonly causes nosebleeds, with more frequent nosebleeds typically starting after about age 12. Patients with HHT have a tendency to form blood vessels that are abnormal, fragile, and bleed more easily. Smaller blood vessel abnormalities can be seen in the skin and are called telangiectasias. They commonly occur on the hands, face, and in the nose, mouth, or lips. Larger blood vessel abnormalities are called arteriovenous malformations (AVMs) and can range from several millimeters in size to several centimeters in size. They can occur anywhere in the body, particularly the nose, lungs, gastrointestinal tract, brain, and liver. For more information, watch our recent video with Dr. Jeff Terrell: Hereditary Hemorrhagic Telangiectasia (HHT) and Nosebleeds.
Symptoms: Nosebleeds (Epistaxis) and Other Symptoms
Patients with hereditary hemorrhagic telangiectasia may have minimal symptoms early in life. In fact, they may not know they have the disease when they are young. Over time, however, this genetic disorder can effect blood vessels in many areas of the body, including the nose, lungs, brain, gastrointestinal tract, skin, liver, and other organs. It can cause substantial quality-of-life problems, and also predisposes patients to potentially significant complications. Complications from HHT can occasionally occur in patients with few or no symptoms at all. Nosebleeds (also called epistaxis) are the most common symptom. Gastrointestinal bleeding may be slow and silent (compared to nosebleeds), but both can cause significant anemia, which may show as fatigue, loss of energy, or shortness of breath. Lung AVMs can cause shortness of breath, or predispose patients to having a stroke.
If you have HHT, even if you don’t have symptoms, it is important that you have basic screening tests performed to see if you are “at risk” for complications. There are interventions and procedures that can substantially reduce the risk of complications which may otherwise occur suddenly and without warning.
Diagnosis of HHT: Who Should Be Assessed?
You should see a doctor and specifically ask about HHT if any of the following pertain to you:
- You have had nosebleeds on a daily or weekly basis for months or years
- You have a family member who also has had similar nosebleeds or a family member with HHT
- You have skin lesions that look like telangiectasias, and you have nosebleeds
- You have a long history of nosebleeds so severe that you have required blood transfusions
If You Have Been Diagnosed with HHT
If you are aware of your disease, have particular problems, and need to see a particular type of specialist, click on the Physicians tab at the top right of this page or this link to the same list of providers who have expertise in assessing and managing patients with Hereditary Hemorrhagic Telangectasia.
If You Have a Blood Relative with HHT or Want Genetic Testing
If you have a blood relative with the disease, and you are concerned you might have HHT, or would like to be certain, visit our Medical Genetics page to learn more about making an appointment to see our genetic counselors. You can also view the profile of a genetic counselor with a specific interest in HHT. Women who are considering pregnancy can also discuss testing newborns (using cord blood).
HHT Expertise at Michigan Medicine
HHT is not a common disease, and not one that is familiar to most doctors. However, there are number of Michigan Medicine providers who have special experience, interest, and desire to help patients with HHT maintain their health, prevent complications, and treat medical issues as they arise.
Michigan Medicine has an outstanding faculty that have cared for HHT patients for many decades, one of whom (Dr. Francis Collins) was the first to find a genetic cause for HHT. Our clinicians continue to treat HHT patients, as well as work to advance the state of knowledge about HHT, and train the next generation of providers about this important disease.
Today, with more than 30 providers in 16 specialties that assess and treat patients with the various problems related to HHT, Michigan Medicine has become the first designated HHT Treatment Center in the state of Michigan. The honor comes from Cure HHT, a nonprofit dedicated to finding a cure for the disease, and the CDC.
Our services include:
- Experienced genetic counselors to evaluate patients who may have the disease and to perform genetic testing, where applicable. View the profile of our genetic counselor.
- Evaluation in multiple specialties including otolaryngology (for nosebleeds), pulmonary diseases, interventional radiology, gastroenterology, neurosurgery, liver diseases, cardiology, heart failure, dermatology, radiation oncology, hematology-oncology and associated pediatric subspecialties.
- State-of-the-art interventional radiology suites, technology and experienced teams to perform embolization procedures.
- Second opinions and consultations with other physicians
- Latest care for patients with advanced HHT disease
To view Michigan Medicine providers who treat HHT, click on the physicians button in the upper right corner of the page, or click on the link to the same list of Michigan Medicine HHT providers. For more information about HHT Treatment, visit our Hereditary Hemorrhagic Telangiectasia Treatment page.
Patient Resources
The non-profit CureHHT.org, established 25 years ago, is an organization dedicated to providing information about HHT for patients, caregivers, doctors and researchers. CureHHT.org is typically the best starting point for the most recent and reliable information about Hereditary Hemorrhagic Telangiectasia. They are a great support group.
Make an Appointment
For Patients
We’d be happy to discuss with you the appropriate next steps, and coordinate appointments with one or more specialists at Michigan Medicine, based on your symptoms, problems, or concerns. Call our patient care coordinator at 734-647-8902, press option 1 and we’ll help you organize a visit. This is particularly good if you live further away and have non-emergent issues, so we have some flexibility in organizing your appointments and in obtaining your medical records.
For Referring Physicians
If you have a patient who has been diagnosed with HHT, or you suspect HHT, we’d be happy to coordinate appointments with one or more specialists at Michigan Medicine. Call our patient care coordinator at 734-647-8902, press option 1 and we can assist you.