Stephen J. Schueler, M.D.

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Hereditary Hemorrhagic Telangiectasia Overview

What is hereditary hemorrhagic telangiectasia?
A person with hereditary hemorrhagic telangiectasia has an inherited disorder that causes abnormal bundles of tiny blood vessels to develop in many parts of the body. The abnormal blood vessels occur in the skin, brain, gastrointestinal tract, lungs, nasal passages, and sinuses. The fragile vessels bleed easily. The bundles of blood vessels are visible beneath the skin surface on the face, lips, nose, mouth, fingers and toes.

What are the symptoms of hereditary hemorrhagic telangiectasia?
Symptoms of hereditary hemorrhagic telangiectasia include bundles of red or purple blood vessels that are visible beneath the skin. Additional symptoms of hereditary hemorrhagic telangiectasia include blood in the stool, black stool, rectal bleeding, vomiting blood, and coughing up blood.

How does the doctor treat hereditary hemorrhagic telangiectasia?
There is no cure for hereditary hemorrhagic telangiectasia. Treatment for hereditary hemorrhagic telangiectasia may include iron supplements, aminocaproic acid, laser therapy, and blood transfusion.

Continue to Hereditary Hemorrhagic Telangiectasia Symptoms

Last Updated: Aug 19, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Hereditary Hemorrhagic Telangiectasia References
  1. Shah RK, Dhingra JK, Shapshay SM. Hereditary hemorrhagic telangiectasia: a review of 76 cases. Laryngoscope. 2002 May;112(5):767-73. [12150604]
  2. Sharma VK, Howden CW. Gastrointestinal and hepatic manifestations of hereditary hemorrhagic telangiectasia. Dig Dis. 1998 May-Jun;16(3):169-74. [9618136]
  3. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000 Mar 6;91(1):66-7. [10751092]
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