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.

Cure HHT (formerly HHT Foundation International, Inc.)

To find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT. To achieve this mission, the HHT Foundation will: fund research;educate families and physicians; provide linkages among people affected by HHT; collaborate with multidisciplinary HHT Treatment Centers worldwide; and advocate for and support those with HHT

Last Updated: 12 Feb 2016

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General Support Organizations

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How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary Hemorrhagic Telangiectasia" for support, advocacy or research.

Cure HHT (formerly HHT Foundation International, Inc.)

To find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT. To achieve this mission, the HHT Foundation will: fund research;educate families and physicians; provide linkages among people affected by HHT; collaborate with multidisciplinary HHT Treatment Centers worldwide; and advocate for and support those with HHT

http://www.curehht.org

Last Updated: 12 Feb 2016

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General Support Organizations

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General Resources

Recorded Webinars

The Cure HHT webinar series informs patients and physicians of the latest information in HHT treatment, medicine and research, but also builds and strengthens the HHT community. The live webinars feature physicians and scientists specializing in HHT,

Updated 22 Dec 2015

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HHT Treatment Centers

An HHT Center of Excellence is defined as a medical practice that facilitates the comprehensive coordination of care necessary for treating a patient who has HHT. The standard of care must either meet or exceed the guidelines recognized by the HHT Fo

Updated 22 Dec 2015

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HHT Fact Sheets and Brochures

We encourage you to print and share the HHT Fact Sheets & Brochures with your local physicians and family members.

Updated 22 Dec 2015

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HHT Patient Resources

Link to a variety of patient resources

Updated 22 Dec 2015

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Physician Resources for HHT

A variety of resources available to physicians treating HHT patients

Updated 22 Dec 2015

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HHT Scientific and Medical Publications

View a comprehensive list of articles that have been published in various scientific and medical journals with references relating to HHT research and discoveries along with updates on medical treatments and procedures.

Updated 22 Dec 2015

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HHT Publications by Topic

For more in depth reading on specific areas of interest, please review the following articles.

Updated 22 Dec 2015

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Glossary of HHT Terminology

Laypersons Guide to HHT Medical Terminology

Updated 22 Dec 2015

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Insurance Issues

Insurance Resources for HHT Patients

state insurance regulators, medicare, social security and disability benefits, how to file an insurance appeal

Uploaded by Advocacy Organization: Cure HHT (formerly HHT Foundation International, Inc.)

Updated 22 Dec 2015

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

Complications and mortality in hereditary hemorrhagic telangiectasia: A population-based study.
 

Author(s): James W Donaldson, Tricia M McKeever, Ian P Hall, Richard B Hubbard, Andrew W Fogarty

Journal: Neurology. 2015 May;84(18):1886-93.

 

Studies report that the risks of significant neurologic complications (including stroke, cerebral abscess, and migraine) and hemorrhagic sequelae are high in patients with hereditary hemorrhagic telangiectasia (HHT), and that life expectancy in this cohort is reduced. However, most ...

Last Updated: 5 May 2015

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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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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.
 

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

Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia

 

Last Updated: 16 Nov 2015

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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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Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study
 

Status: Not yet recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia; Idiopathic Vascular Ectasia

 

Last Updated: 6 Nov 2014

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