Hereditary hemorrhagic telangiectasia type 4

Common Name(s)

Hereditary hemorrhagic telangiectasia type 4

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 4" 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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hemorrhagic telangiectasia type 4" 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 4" returned 0 free, full-text research articles on human participants.

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 4" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.