Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Hereditary hemorrhagic telangiectasia

Reviewed February 2007

What is hereditary hemorrhagic telangiectasia?

Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart.

In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface of the skin, where they are visible as red markings, they are known as telangiectases (the singular is telangiectasia).

Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent episodes of severe bleeding (hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs.

Forms of hereditary hemorrhagic telangiectasia include type 1, type 2, type 3, and juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have blood vessel malformations in the lungs and brain. Type 2 and type 3 may be associated with a higher risk of liver involvement. Women are more likely than men to develop blood vessel malformations in the lungs with type 1, and are also at higher risk of liver involvement with both type 1 and type 2. Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems.

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Types 1, 2 and 3 do not appear to increase the likelihood of such polyps.

How common is hereditary hemorrhagic telangiectasia?

The incidence of hereditary hemorrhagic telangiectasia is difficult to determine because the severity of symptoms can vary widely and some symptoms, such as frequent nosebleeds, are common in the general population. In addition, arteriovenous malformations may be associated with other medical conditions. Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many ethnic groups around the world. It is believed to affect between 1 in 5,000 and 1 in 10,000 people.

What genes are related to hereditary hemorrhagic telangiectasia?

Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the gene SMAD4. All these genes provide instructions for making proteins that are found in the lining of the blood vessels. These proteins interact with growth factors that control blood vessel development. The gene involved in hereditary hemorrhagic telangiectasia type 3 is not known, but is believed to be located on chromosome 5.

Mutations in these genes generally prevent the production of the associated protein, or result in the production of a defective protein that cannot fulfill its function. An individual with a mutated gene will therefore have a reduced amount of the functional protein available in the tissue lining the blood vessels. This deficiency is believed to result in the signs and symptoms of hereditary hemorrhagic telangiectasia.

Related Gene(s)

Changes in these genes are associated with hereditary hemorrhagic telangiectasia.

  • ACVRL1
  • ENG
  • SMAD4

How do people inherit hereditary hemorrhagic telangiectasia?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of hereditary hemorrhagic telangiectasia?

These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia and may include treatment providers.

  • Gene Review: Hereditary Hemorrhagic Telangiectasia (http://www.ncbi.nlm.nih.gov/books/NBK1351)
  • Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1838163)
  • Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1832774)
  • Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1857688)
  • Genetic Testing Registry: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1832942)
  • Genetic Testing Registry: Osler hemorrhagic telangiectasia syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0039445)
  • MedlinePlus Encyclopedia: Osler-Weber-Rendu syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm)

You might also find information on the diagnosis or management of hereditary hemorrhagic telangiectasia in Educational resources (http://www.ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about hereditary hemorrhagic telangiectasia?

You may find the following resources about hereditary hemorrhagic telangiectasia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for hereditary hemorrhagic telangiectasia?

  • HHT
  • Osler hemorrhagic telangiectasia syndrome
  • Osler-Rendu Disease
  • Osler-Rendu-Weber disease
  • Osler's disease
  • Rendu-Osler-Weber
  • Weber-Osler

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about hereditary hemorrhagic telangiectasia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding hereditary hemorrhagic telangiectasia?

arteries ; arteriovenous ; autosomal ; autosomal dominant ; capillaries ; cell ; chromosome ; compression ; deficiency ; elastic ; gastrointestinal ; gene ; hemorrhage ; hereditary ; incidence ; inherited ; juvenile ; oxygen ; polyposis ; population ; protein ; syndrome ; telangiectasia ; tissue ; veins

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A. 2006 Oct 15;140(20):2155-62. (http://www.ncbi.nlm.nih.gov/pubmed/16969873?dopt=Abstract)
  • Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A. 2006 Mar 1;140(5):463-70. (http://www.ncbi.nlm.nih.gov/pubmed/16470787?dopt=Abstract)
  • Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet. 2005 Jul;42(7):577-82. (http://www.ncbi.nlm.nih.gov/pubmed/15994879?dopt=Abstract)
  • Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004 Mar 13;363(9412):852-9. (http://www.ncbi.nlm.nih.gov/pubmed/15031030?dopt=Abstract)
  • OMIM: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (http://omim.org/entry/175050)
  • Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99. (http://www.ncbi.nlm.nih.gov/pubmed/15024723?dopt=Abstract)
  • Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, Westermann CJ. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet. 2006 Apr;43(4):371-7. Epub 2005 Sep 9. (http://www.ncbi.nlm.nih.gov/pubmed/16155196?dopt=Abstract)
  • Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet. 2005 Jan;116(1-2):8-16. Epub 2004 Oct 23. (http://www.ncbi.nlm.nih.gov/pubmed/15517393?dopt=Abstract)
  • Pasculli G, Resta F, Guastamacchia E, Di Gennaro L, Suppressa P, Sabbà C. Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease. Qual Life Res. 2004 Dec;13(10):1715-23. (http://www.ncbi.nlm.nih.gov/pubmed/15651542?dopt=Abstract)
  • Sanz-Rodriguez F, Fernandez-L A, Zarrabeitia R, Perez-Molino A, Ramírez JR, Coto E, Bernabeu C, Botella LM. Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. Clin Chem. 2004 Nov;50(11):2003-11. Epub 2004 Sep 16. (http://www.ncbi.nlm.nih.gov/pubmed/15375013?dopt=Abstract)
  • Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000 Mar 6;91(1):66-7. (http://www.ncbi.nlm.nih.gov/pubmed/10751092?dopt=Abstract)
  • OMIM: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 3 (http://omim.org/entry/601101)
  • Wallace GM, Shovlin CL. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. Thorax. 2000 Aug;55(8):685-90. (http://www.ncbi.nlm.nih.gov/pubmed/10899246?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2007
Published: November 17, 2014