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.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Brain Vascular Malformation Consortium has information and frequently asked questions about Hereditary hemorrhagic telangiectasia for patients and their families.
Learn More About Hereditary Hemorrhagic Telangiectasia (HHT)
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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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