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Von Willebrand Disease

National Organization for Rare Disorders, Inc.

Important

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.

Synonyms

  • VWD

Disorder Subdivisions

  • von Willebrand syndrome type 1
  • von Willebrand syndrome type 2A
  • von Willebrand syndrome type 2B
  • von Willebrand syndrome type 2M
  • von Willebrand syndrome type 2N
  • von Willebrand syndrome type 3

General Discussion

Summary

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.



Introduction

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).

Resources

National Hemophilia Foundation

116 West 32nd Street, 11th Floor

New York, NY 10001

USA

Tel: (212)328-3700

Fax: (212)328-3777

Tel: (800)424-2634

Email: handi@hemophilia.org

Internet: http://www.hemophilia.org



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Internet: http://www.nhlbi.nih.gov/



World Federation of Hemophilia

1425 René Lévesque Blvd. W. Suite 1010

Montreal

Quebec, H3G 1T7

Canada

Tel: 5148757944

Fax: 5148758916

Email: wfh@wfh.org

Internet: http://www.wfh.org/index.asp?lang=EN



Children's Cancer & Blood Foundation

333 East 38th Street, Suite 830

New York, NY 10016-2745

Tel: (212)297-4336

Fax: (212)297-4340

Email: info@childrenscbf.org

Internet: http://www.childrenscbf.org/



Hemophilia Federation of America

210 7th St. SE

Suite 200B

Washington, DC 20003

USA

Tel: (202)675-6984

Fax: (202)675-6983

Tel: (800)230-9797

Email: info@hemophiliafed.org

Internet: http://www.hemophiliafed.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/



Irish Haemophilia Society

First Floor

Cathedral Court

New Street

Dublin, 7

Ireland

Tel: 353016579900

Fax: 353016579901

Email: info@haemophilia.ie

Internet: http://www.haemophilia.ie/



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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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:  11/26/2012

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