Skip to content

    Children's Health

    Font Size
    A
    A
    A

    Hereditary Hemorrhagic Telangiectasia

    Important
    It is possible that the main title of the report Hereditary Hemorrhagic Telangiectasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • HHT
    • Osler-Weber Rendu Syndrome
    • Rendu-Osler-Weber Syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu syndrome) is an inherited disorder characterized by malformations of various blood vessels (vascular dysplasia), usually resulting in bleeding (hemorrhaging). Chronic nosebleeds are often the first sign and malformation of various blood vessels may result in abnormalities affecting the lungs, brain, spinal cord, and liver. A variety of treatments exist for the various features of HHT to improve quality of life and prevent life-threatening complications Individuals with HHT have a near-normal life expectancy. HHT is inherited as an autosomal dominant trait.

    Introduction
    HHT was first described by Henry Gawen Sutton in 1864. With similar symptoms to hemophilia the two diseases were differentiated by Henri Jules Louis Marie Rendu in 1896. William Osler connected the disease's presence in families to establish it as an inherited disorder. In 1907 Frederick Parkes Weber continued the characterization of the disease, writing a report on a series of cases. In 1909, the name "hereditary hemorrhagic telangiectasia" was coined, but alternate names based on the scientists who first characterized it have also been commonly used. Since its first identification, HHT has been an underdiagnosed disease, affecting more than a million people worldwide.

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    HHT Foundation International, Inc.
    P.O. Box 329
    Monkton, MD 21111
    United States
    Tel: (410)357-9932
    Fax: (410)357-0655
    Tel: (800)448-6389
    Email: hhtinfo@hht.org
    Internet: http://www.hht.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 3/20/2014
    Copyright 1986, 1988, 1989, 1994, 1995, 1996, 1997, 1999, 2000, 2001, 2002, 2003, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Child Coughing or Sneezing into Elbow
    Article