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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.

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]
Last updated: 11/7/2011

References

  1. Haldeman-Englert C. Osler-Weber-Rendu syndrome. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm. Accessed 7/22/2010.
  2. Hereditary hemorrhagic telangiectasia. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition%3Dhereditaryhemorrhagictelangiectasia. Accessed 7/22/2010.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. 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.
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  • 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.

Selected Full-Text Journal Articles

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.