Hereditary hemorrhagic telangiectasia
Other Names for this Disease
- Osler Weber Rendu syndrome
- ORW disease
- Osler-Rendu-Weber disease
- Rendu-Osler-Weber disease
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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. HHT is caused by mutations in several genes, including ACVRL1, ENG, SMAD4, and GDF2. At least 2 additional as-yet-unknown genes are also suspected. 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. There is no cure for HHT. Treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication.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
Last updated: 4/20/2016
- 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.
- Genetics Home Reference (GHR) contains information on Hereditary hemorrhagic telangiectasia. This website is maintained by the National Library of Medicine.
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- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Brain Vascular Malformation Consortium has information and frequently asked questions about Hereditary hemorrhagic telangiectasia for patients and their families.
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Frequently Asked Questions about HHT
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary hemorrhagic telangiectasia. Click on the link to view a sample search on this topic.
- Hereditary haemorrhagic telangiectasia: a clinical and scientific review. European Journal of Human Genetics (2009), 1–12