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Hereditary hemorrhagic telangiectasia

Other Names for this Disease
  • Hereditary hemorrhagic telangiectasia type 1
  • HHT
  • HHT1
  • ORW disease
  • ORW1
More Names
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Overview


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]

References

  1. Haldeman-Englert C. Osler-Weber-Rendu syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm. Accessed July 22, 2010.
  2. Hereditary hemorrhagic telangiectasia. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition%3Dhereditaryhemorrhagictelangiectasia. Accessed July 22, 2010.
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General Information

  • Genetics Home Reference (GHR) contains information on Hereditary hemorrhagic telangiectasia. Click on the link to go to GHR and review the information.
  • eMedicine has 2 articles on this topic from the perspective of Vascular Surgery and Dermatology. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hereditary hemorrhagic telangiectasia. Click on the link to go to OMIM and review these resources.

Selected Full-Text Journal Articles