Von Willebrand Disease
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Von Willebrand Disease 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.
Von Willebrand disease (VWD) is a common inherited bleeding disorder in the general population affecting males and females equally. There are three main types of VWD (VWD type 1, VWD type 2, and VWD type 3) each with differing degrees of severity and inheritance patterns. Unlike hemophilia which is characterized by joint bleeding, VWD is typically characterized by mucocutaneous bleeding. VWD is caused by a defect or deficiency in von Willebrand Factor (VWF), a large protein made up of multiple subunits. VWF binds to clotting factor VIII in the circulation and protects it from being broken down. VWF also helps platelets bind to the inside of injured blood vessels. This leads to the formation of a stable blood clot which plugs an injured blood vessel and stops bleeding. If there is an insufficient quantity of VWF or if it is defective, an individual may have difficulty forming a blood clot. Most affected individuals have the relatively mild form of the disease, VWD type 1, and are not diagnosed until adulthood. A small percentage of these individuals may have prolonged bleeding during infancy or early childhood. Symptoms can include nosebleeds, bleeding from the gums, and easy bruising. In women with VWD, heavy menses frequently occurs. Affected individuals may bleed easily after injury, childbirth, and/or surgery. Bleeding from the stomach and intestines can occur but is less common.
VWD was first described in the medical literature in 1926 by Dr. Erik von Willebrand, who differentiated the disorder from classic hemophilia. In addition to the genetic form, VWD can be acquired during life, often in relation to a separate underlying condition. This report deals specifically with the genetic forms. VWD types 1 and 3 may also be referred to as partial quantitative deficiency or total quantitative deficiency, respectively, because they are associated with low levels or near complete absence of VWF. VWD type 2 may also be referred to as qualitative VWD because VWF is present in normal or near normal levels, but doesn't function properly. In recent years, the understanding of the genetic factors and biochemistry associated with VWD has advanced considerably, especially for types 2 and 3. However, many questions and controversy still remain regarding the diagnosis and definition of VWD type 1 (see Causes section below).
National Hemophilia Foundation
116 West 32nd Street, 11th Floor
New York, NY 10001
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
World Federation of Hemophilia
1425 René Lévesque Blvd. W. Suite 1010
Quebec, H3G 1T7
Children's Cancer & Blood Foundation
333 East 38th Street, Suite 830
New York, NY 10016-2745
Hemophilia Federation of America
210 7th St. SE
Washington, DC 20003
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Irish Haemophilia Society
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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
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Last Updated: 11/26/2012
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