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.

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

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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BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
 

Author(s): Whitney L Wooderchak-Donahue, Jamie McDonald, Brendan O'Fallon, Paul D Upton, Wei Li, Beth L Roman, Sarah Young, Parker Plant, Gyula T Fülöp, Carmen Langa, Nicholas W Morrell, Luisa M Botella, Carmelo Bernabeu, David A Stevenson, James R Runo, Pinar Bayrak-Toydemir

Journal: Am. J. Hum. Genet.. 2013 Sep;93(3):530-7.

 

Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features ...

Last Updated: 9 Sep 2013

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Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation.
 

Author(s): Oya Balci, Figen Özçay

Journal: Turk J Gastroenterol. 2013 ;24(1):57-60.

 

An adolescent girl with recurrent iron deficiency anemia, epistaxis, cyanosis, hypoxemia, clubbing, two juvenile polyps in the colon, oro-naso-pharyngeal telangiectasias, multiple arterio-venous malformations of the lungs, and a new homozygous mutation in SMAD4 gene is reported. Patients ...

Last Updated: 24 Jun 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:

[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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Imaging of hereditary hemorrhagic telangiectasia.
 

Author(s): Marie-France Carette, Cosmina Nedelcu, Marc Tassart, Jean-Didier Grange, Marie Wislez, Antoine Khalil

Journal: Cardiovasc Intervent Radiol. 2009 Jul;32(4):745-57.

 

This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, ...

Last Updated: 6 Jul 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia
 

Status: Recruiting

Condition Summary: Epistaxis; Hereditary Hemorrhagic Telangiectasia

 

Last Updated: 27 Feb 2013

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Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia

 

Last Updated: 7 Nov 2013

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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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