Hereditary hemorrhagic telangiectasia type 2

Common Name(s)

Hereditary hemorrhagic telangiectasia type 2

Also known as: ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I, ACVRL1 Summary: activin A receptor type II-like 1) HHT is characterized by arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. Most common clinical manifestation is spontaneous, recurrent nosebleeds. Large AVMs often cause symptoms when they occur in the brain, liver, or lungs; complications from bleeding or shunting may be sudden and catastrophic.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hemorrhagic telangiectasia type 2" for support, advocacy or research.

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: 2 Nov 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hemorrhagic telangiectasia type 2" for support, advocacy or research.

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.curehht.org

Last Updated: 2 Nov 2015

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General Support Organizations

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General Resources

HHT Research

HHT research priorities, research grants and awards, tissue donation, mutation database, and clinical trials

Updated 2 Nov 2015

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Manage HHT

HHT diagnostic criteria, quick medical facts, screening guidelines, Nosebleed Severity Score, treatment of HHT, and genetic testing

Updated 2 Nov 2015

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Physician Directory

geographical listing of HHT Centers of Excellence and doctors treating HHT

Updated 2 Nov 2015

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HHT Resources

HHT webinars, fact sheets, brochures, treatment centers, medical publications, organ-specific articles, glossary of HHT terms

Updated 2 Nov 2015

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NIH Genetics Reference

genetic summary of HHT including diagnosis & treatment, genetic testing specifics, related disorders

Updated 2 Nov 2015

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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 type 2" returned 4 free, full-text research articles on human participants. First 3 results:

Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.
 

Author(s): Minsu Ha, Yoon Jae Kim, Kwang An Kwon, Ki Baik Hahm, Mi-Jung Kim, Dong Kyu Kim, Young Jae Lee, S Paul Oh

Journal: World J. Gastroenterol.. 2012 Apr;18(15):1840-4.

 

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominantly inherited disease that occurs in approximately one in 5000 to 8000 people. Clinical diagnosis of HHT is made when a person presents three of the following four criteria: family history, recurrent nosebleeds, ...

Last Updated: 3 May 2012

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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.
 

Author(s): Sudha Srinivasan, Martha A Hanes, Tayeashai Dickens, Mary E M Porteous, S Paul Oh, Laura P Hale, Douglas A Marchuk

Journal: Hum. Mol. Genet.. 2003 Mar;12(5):473-82.

 

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder characterized by the age-dependent development of focal arteriovenous malformations and telangiectases. HHT type 2 is caused by loss of function mutations in activin receptor-like kinase 1 (ACVRL1 or ALK1). ...

Last Updated: 17 Feb 2003

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Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
 

Author(s): S A Abdalla, N Pece-Barbara, S Vera, E Tapia, E Paez, C Bernabeu, M Letarte

Journal: Hum. Mol. Genet.. 2000 May;9(8):1227-37.

 

ALK-1 (activin receptor-like kinase-1), a type I receptor of the transforming growth factor (TGF)-beta superfamily, is the gene mutated in hereditary hemorrhagic telangiectasia type 2 (HHT2) while endoglin is mutated in HHT1. Using a novel polyclonal antibody to ALK-1, we measured ...

Last Updated: 23 Jun 2000

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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 type 2" returned 0 free, full-text review articles on human participants.

 
 
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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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