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 117 free, full-text research articles on human participants. First 3 results:

Radiofrequency ablation of post-incisional atrial flutter and high-output heart failure in a patient with interrupted inferior vena cava and hereditary hemorrhagic telangiectasia.
 

Author(s): Srikanth Seethala, Hemal Shah, Friedrich Knollmann, Ravi Ramani, Jan Němec

Journal: Hellenic J Cardiol. ;54(6):474-9.

 

A 61-year-old female with a history of secundum atrial septal defect repair and hereditary hemorrhagic telangiectasia presented with epistaxis. She was found to have atypical atrial flutter with 2:1 atrioventricular conduction. Radiofrequency ablation was planned, but inferior vena ...

Last Updated: 5 Dec 2013

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Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.
 

Author(s): Ana Fontalba, Jose L Fernández-Luna, Roberto Zarrabeitia, Lucia Recio-Poveda, Virginia Albiñana, Maria L Ojeda-Fernández, Carmelo Bernabéu, Luis A Alcaraz, Luisa M Botella

Journal:

 

The hereditary hemorrhagic telangiectasia syndrome (HHT), also known as the Rendu-Osler-Weber syndrome is a multiorganic vascular disorder inherited as an autosomal dominant trait. Diagnostic clinical criteria include: epistaxis, telangiectases in mucocutaneous and gastrointestinal ...

Last Updated: 2 Dec 2013

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Hemorrhage-adjusted iron requirements, hematinics and hepcidin define hereditary hemorrhagic telangiectasia as a model of hemorrhagic iron deficiency.
 

Author(s): Helen Finnamore, James Le Couteur, Mary Hickson, Mark Busbridge, Kevin Whelan, Claire L Shovlin

Journal:

 

Iron deficiency anemia remains a major global health problem. Higher iron demands provide the potential for a targeted preventative approach before anemia develops. The primary study objective was to develop and validate a metric that stratifies recommended dietary iron intake to ...

Last Updated: 22 Oct 2013

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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 8 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: 4 Sep 2014

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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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