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Genetic and Rare Diseases Information Center (GARD)

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Hereditary hemorrhagic telangiectasia


Other Names for this Disease

  • Hereditary hemorrhagic telangiectasia type 1
  • HHT
  • HHT1
  • ORW disease
  • ORW1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Can hereditary hemorrhagic telangiectasia (HHT) be treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hereditary hemorrhagic telangiectasia (HHT)?

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The AVMs can also develop in other parts of the body, such as the brain, lungs, liver, or intestines.[1] HHT is caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.[2] There is no cure for HHT. Treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication.[1]
Last updated: 11/7/2011

Can hereditary hemorrhagic telangiectasia (HHT) be treated?

Yes. Although there is not yet a way to prevent the telangiectases or AVMs associated with HHT, most can be treated once they occur.[3] Management includes surveillance for undiagnosed AVMs and treatment for identified complications such as nosebleeds, gastrointestinal bleeding, anemia, pulmonary AVMs, cerebral AVMs, and hepatic AVMs.[3][4]

Treatment of nosebleeds with humidification and nasal lubricants, laser ablation, septal dermoplasty, or estrogen-progesterone therapy can prevent anemia and allow individuals with HHT to pursue normal activities.[3][4]

Individuals with GI bleeding are treated with iron therapy to maintain hemoglobin concentration; endoscopic application of a heater probe, bicap, or laser; surgical removal of bleeding sites; and estrogen-progesterone therapy.[3][4] Iron replacement and red blood cell transfusions are used to treat anemia.[3][4] Pulmonary AVMs with feeding vessels that exceed 3.0 mm in diameter require occlusion. Cerebral AVMs greater than 1.0 cm in diameter are treated by surgery, embolotherapy, and/or stereotactic radiosurgery. The treatment of choice for hepatic AVMs is liver transplantation.[4]

Blood-thinning medications (anticoagulants) and anti-inflammatory agents should be avoided. Some patients may need to take antibiotics during simple dental or surgical procedures. Individual patients and their doctors should make decisions regarding these measures, as necessary.[4]

Surveillance includes annual evaluations for anemia and neurologic conditions and re-evaluation for pulmonary AVMs every one to two years during childhood and every five years thereafter. Women with HHT considering pregnancy are screened and treated for pulmonary AVMs; if pulmonary AVMs are discovered during pregnancy, they are treated during the second trimester. [3][4]

Last updated: 7/22/2010

What types of medical professionals can treat and provide ongoing care to individuals with hereditary hemorrhagic telangiectasia (HHT)?

The HHT Foundation recommends that people with HHT be assessed at least once at a specialized HHT Center. These centers facilitate the comprehensive coordination of care necessary for treating a patient who has HHT by proactively managing the care of patients with HHT. At these centers, a coordinated team of experts, knowledgeable about HHT, collectively cares for the patients seen at the Center. In most cases, a full-time nurse works closely with the specialists to care for the patient. Usually there is a coordinator on site to ensure proper follow up and coordination of patients care throughout the Center.[3]

Each Center provides medical services that are currently being provided at that facility, but will provide these services in a more organized and consistent fashion. The patients have access to physicians who specialize in all aspects of HHT.[3]

To locate an HHT Treatment Center near you, visit the following link:
http://www.hht.org/living-with-hht/treatment-centers/

If you are not able to get to a HHT Center, a genetics professional can help to coordinate your care. You may also benefit from seeing specialists in pulmonary medicine, gastroenterology, and an ears, nose and throat specialist (ENT). Other specialists may be appropriate, depending on your symptoms.[3]

Last updated: 7/22/2010

How can I find a genetics professional in my area?

Genetics clinics are a source of information for people and families with a genetic condition. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
  • GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
  • The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
  • The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
  • The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
  • The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
Last updated: 11/19/2014

References
Other Names for this Disease
  • Hereditary hemorrhagic telangiectasia type 1
  • HHT
  • HHT1
  • ORW disease
  • ORW1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.