Hereditary hemorrhagic telangiectasia type 2

Common Name(s)

Hereditary hemorrhagic telangiectasia type 2

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. 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. There is no cure for HHT. Treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hemorrhagic telangiectasia type 2" for support, advocacy or research.

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HHT Foundation International

Our mission is to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT.

http://www.hht.org

Last Updated: 26 Aug 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hemorrhagic telangiectasia type 2" for support, advocacy or research.

Logo
HHT Foundation International

Our mission is to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT.

http://www.hht.org

Last Updated: 26 Aug 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hereditary hemorrhagic telangiectasia type 2" returned 4 free, full-text research articles on human participants. First 3 results:

Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.
 

Author(s): Minsu Ha, Yoon Jae Kim, Kwang An Kwon, Ki Baik Hahm, Mi-Jung Kim, Dong Kyu Kim, Young Jae Lee, S Paul Oh

Journal: World J. Gastroenterol.. 2012 Apr;18(15):1840-4.

 

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominantly inherited disease that occurs in approximately one in 5000 to 8000 people. Clinical diagnosis of HHT is made when a person presents three of the following four criteria: family history, recurrent nosebleeds, ...

Last Updated: 3 May 2012

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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.
 

Author(s): Sudha Srinivasan, Martha A Hanes, Tayeashai Dickens, Mary E M Porteous, S Paul Oh, Laura P Hale, Douglas A Marchuk

Journal: Hum. Mol. Genet.. 2003 Mar;12(5):473-82.

 

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder characterized by the age-dependent development of focal arteriovenous malformations and telangiectases. HHT type 2 is caused by loss of function mutations in activin receptor-like kinase 1 (ACVRL1 or ALK1). ...

Last Updated: 17 Feb 2003

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Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
 

Author(s): S A Abdalla, N Pece-Barbara, S Vera, E Tapia, E Paez, C Bernabeu, M Letarte

Journal: Hum. Mol. Genet.. 2000 May;9(8):1227-37.

 

ALK-1 (activin receptor-like kinase-1), a type I receptor of the transforming growth factor (TGF)-beta superfamily, is the gene mutated in hereditary hemorrhagic telangiectasia type 2 (HHT2) while endoglin is mutated in HHT1. Using a novel polyclonal antibody to ALK-1, we measured ...

Last Updated: 23 Jun 2000

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hereditary hemorrhagic telangiectasia type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.