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

A case report of hepatopulmonary syndrome in hereditary hemorrhagic telangiectasia (HHT): Not all right-to-left shunting in HHT is due to pulmonary arteriovenous malformations.
 

Author(s): Sheila Krishnan, Tim Lahm

Journal: Medicine (Baltimore). 2018 Aug;97(32):e11513.

 

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vessel growth that results in telangiectasias and arteriovenous malformations (AVMs) in the skin, mucosa, and viscera. Up to 30% of patients with HHT exhibit pulmonary AVMs (PAVMs), ...

Last Updated: 31 Dec 1969

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Clinical features and treatment of hereditary hemorrhagic telangiectasia.
 

Author(s): Sen Li, Shu-Jie Wang, Yong-Qiang Zhao

Journal: Medicine (Baltimore). 2018 Aug;97(31):e11687.

 

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by vascular dysplasia, including typically systemic telangiectases and arteriovenous malformations (AVMs). Due to its variable clinical manifestations, HHT patients often seek medical care ...

Last Updated: 31 Dec 1969

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Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.
 

Author(s): Ludmila Pawlikowska, Jeffrey Nelson, Diana E Guo, Charles E McCulloch, Michael T Lawton, Helen Kim, Marie E Faughnan,

Journal: Mol Genet Genomic Med. 2018 05;6(3):350-356.

 

Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in TGFβ/BMP9 pathway genes and characterized by vascular malformations (VM) including arteriovenous malformations (AVM) in lung, liver, and brain, which lead to severe complications including intracranial hemorrhage ...

Last Updated: 31 Dec 1969

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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 20 free, full-text review articles on human participants. First 3 results:

Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature.
 

Author(s): Evangelo Boumis, Alessandro Capone, Vincenzo Galati, Carolina Venditti, Nicola Petrosillo

Journal:

 

In the last decades, probiotics have been widely used as food supplements because of their putative beneficial health effects. They are generally considered safe but rare reports of serious infections caused by bacteria included in the definition of probiotics raise concerns on their ...

Last Updated: 31 Dec 1969

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The Lung in Hereditary Hemorrhagic Telangiectasia.
 

Author(s): Sophie Dupuis-Girod, Vincent Cottin, C L Shovlin

Journal: Respiration. 2017 ;94(4):315-330.

 

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the ...

Last Updated: 31 Dec 1969

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Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.
 

Author(s): Samuel B Jackson, Nicholas P Villano, Jihane N Benhammou, Michael Lewis, Joseph R Pisegna, David Padua

Journal: Dig. Dis. Sci.. 2017 10;62(10):2623-2630.

 

Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Doxycycline for Hereditary Hemorrhagic Telangiectasia
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia (HHT)

 

Last Updated: 11 Sep 2018

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Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia

 

Last Updated: 28 Jun 2018

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Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT)
 

Status: Recruiting

Condition Summary: Hereditary Hemorrhagic Telangiectasia

 

Last Updated: 27 Jun 2018

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