Hereditary Hemorrhagic Telangiectasia

Common Name(s)

Hereditary Hemorrhagic Telangiectasia, Osler hemorrhagic telangiectasia syndrome, Osler Weber Rendu syndrome, HHT

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" 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.

Last Updated: 26 Aug 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary Hemorrhagic Telangiectasia" 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" returned 139 free, full-text research articles on human participants. First 3 results:

Case for diagnosis. Hereditary Hemorrhagic Telangiectasia.
 

Author(s): Juliana Catucci Boza, Timotio Volnei Dorn, Fabiana Bazanella de Oliveira, Renato Marchiori Bakos

Journal: An Bras Dermatol. ;89(6):999-1001.

 

The Osler-Weber-Rendu syndrome or Hereditary Hemorrhagic Telangiectasia (HHT) is a systemic fibrovascular dysplasia characterized by defects in the elastic and vascular walls of blood vessels, making them varicose and prone to disruptions. Lesions occur in different organs and can ...

Last Updated: 12 Nov 2014

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Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia.
 

Author(s): Tsukasa Ishiwata, Jiro Terada, Nobuhiro Tanabe, Mitsuhiro Abe, Toshihiko Sugiura, Kenji Tsushima, Yuji Tada, Seiichiro Sakao, Yasunori Kasahara, Norifumi Nakanishi, Hiroko Morisaki, Koichiro Tatsumi

Journal: Intern. Med.. 2014 ;53(20):2359-63.

 

A 17-year-old Japanese girl visited our hospital for an evaluation of exertional dyspnea. A diagnosis of pulmonary arterial hypertension (PAH) was confirmed based on the findings of right heart catheterization. Detailed questioning revealed a family history of hereditary hemorrhagic ...

Last Updated: 16 Oct 2014

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Histogram flow mapping with optical coherence tomography for in vivo skin angiography of hereditary hemorrhagic telangiectasia.
 

Author(s): Kyle H Y Cheng, Adrian Mariampillai, Kenneth K C Lee, Barry Vuong, Timothy W H Luk, Joel Ramjist, Anne Curtis, Henry Jakubovic, Peter Kertes, Michelle Letarte, Marie E Faughnan, , Victor X D Yang

Journal: J Biomed Opt. 2014 Aug;19(8):086015.

 

Speckle statistics of flowing scatterers have been well documented in the literature. Speckle variance optical coherence tomography exploits the large variance values of intensity changes in time caused mainly by the random backscattering of light resulting from translational activity ...

Last Updated: 21 Aug 2014

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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" returned 9 free, full-text review articles on human participants. First 3 results:

Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview.
 

Author(s): P Lacombe, A Lacout, P-Y Marcy, S Binsse, J Sellier, M Bensalah, T Chinet, I Bourgault-Villada, S Blivet, J Roume, G Lesur, J-H Blondel, C Fagnou, A Ozanne, S Chagnon, M El Hajjam

Journal: Diagn Interv Imaging. 2013 Sep;94(9):835-48.

 

Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomic dominant disorder, which is characterized by the development of multiple arteriovenous malformations in either the skin, mucous membranes, and/or visceral organs. Pulmonary arteriovenous malformations ...

Last Updated: 23 Sep 2013

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[Hereditary Hemorrhagic Telangiectasia with iron-deficiency anemia: a case report and literature review].
 

Author(s): Li-na Zhang, Li Zhang, Xiao-fan Liu

Journal: Zhonghua Xue Ye Xue Za Zhi. 2012 Nov;33(11):916.

 

Last Updated: 31 Jan 2013

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Hereditary hemorrhagic telangiectasia.
 

Author(s): Anne Grand'Maison

Journal: CMAJ. 2009 Apr;180(8):833-5.

 

Last Updated: 14 Apr 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia

 

Last Updated: 11 May 2015

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Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia; Epistaxis

 

Last Updated: 1 Dec 2011

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Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia (HHT)

 

Last Updated: 25 Jul 2011

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