Hereditary hemorrhagic telangiectasia
- Osler Weber Rendu syndrome
- ORW disease
- Osler-Rendu-Weber disease
- Rendu-Osler-Weber disease
Your QuestionCan hereditary hemorrhagic telangiectasia (HHT) be treated?
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Questions on this page
- What is hereditary hemorrhagic telangiectasia (HHT)?
- How might hereditary hemorrhagic telangiectasia (HHT) be treated?
- What types of medical professionals can treat and provide ongoing care to individuals with hereditary hemorrhagic telangiectasia (HHT)?
- How can I find a genetics professional in my area?
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. In more severe cases, coagulation therapy may be needed.
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. Iron replacement and red blood cell transfusions are used to treat anemia.
Treatment of pulmonary AVMs is indicated for dyspnea, exercise intolerance, hypoxemia, and prevention of lung hemorrhage and the neurologic complications of brain abscess and stroke. Pulmonary AVMs with feeding vessels that exceed 1.0 mm in diameter require consideration of occlusion. Preventive measures should be undertaken by those who have pulmonary AVMs, including antibiotics prior to dental or surgical procedures, the implementation of IV filters, avoidance of blood thinners and non-steroidal anti-inflammatory medications, and regular monitoring by a qualified medical professional.
Cerebral AVMs greater than 1.0 cm in diameter are usually treated by surgery, embolotherapy, and/or stereotactic radiosurgery. Liver AVMs are currently treated only if a patient shows signs of heart failure or other significant health problems. Treatments might include liver transplantation or medications like bevacizumab.
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.
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.
To locate an HHT Treatment Center near you, visit the following link:
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.
The following online resources can help you find a genetics professional in your community:
- 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.
- Haldeman-Englert C. Osler-Weber-Rendu syndrome. MedlinePlus. April 20, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm.
- McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews. July 24, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1351/.
- Hereditary hemorrhagic telangiectasia. Genetics Home Reference (GHR). February 2007; https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia.
- Treatment of HHT. Cure HHT. 2015; http://curehht.org/living-with-hht/screening-and-treatment/.
- HHT Treatment Centers. Cure HHT. 2015; http://curehht.org/resources/hht-treatment-centers/.