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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary hemorrhagic telangiectasia


Other Names for this Disease
  • HHT
  • Osler Weber Rendu syndrome type 1
  • Telangiectasia hereditary hemorrhagic type 1
  • ORW1
  • Osler Weber Rendu syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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Can hereditary hemorrhagic telangiectasia (HHT) be treated?

Yes. Although there is not yet a way to prevent the telangiectases or AVMs associated with HHT, most can be treated once they occur.[1] Management includes surveillance for undiagnosed AVMs and treatment for identified complications such as nosebleeds, gastrointestinal bleeding, anemia, pulmonary AVMs, cerebral AVMs, and hepatic AVMs.[1][2]

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.[1][2]

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.[1][2] Iron replacement and red blood cell transfusions are used to treat anemia.[1][2] Pulmonary AVMs with feeding vessels that exceed 3.0 mm in diameter require occlusion. Cerebral AVMs greater than 1.0 cm in diameter are treated by surgery, embolotherapy, and/or stereotactic radiosurgery. The treatment of choice for hepatic AVMs is liver transplantation.[2]

Blood-thinning medications (anticoagulants) and anti-inflammatory agents should be avoided. Some patients may need to take antibiotics during simple dental or surgical procedures. Individual patients and their doctors should make decisions regarding these measures, as necessary.[2]

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. [1][2]

Last updated: 7/22/2010

References
  1. About HHT. HHT Foundation International. http://hht.org/about-hht/. Accessed 7/22/2010.
  2. McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hht. Accessed 7/22/2010.


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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The International HHT guidelines goal was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of HHT-related complications and treatment of symptomatic disease.  Click on the link to read the abstract for the International Guidelines,  published in February 2011 in the American Journal of Medical Genetics.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Hereditary hemorrhagic telangiectasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • HHT
  • Osler Weber Rendu syndrome type 1
  • Telangiectasia hereditary hemorrhagic type 1
  • ORW1
  • Osler Weber Rendu syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.