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In Brief

Von Willebrand Disease

Stacy Cooper and Clifford Takemoto
Pediatrics in Review March 2014, 35 (3) 136-137; DOI: https://doi.org/10.1542/pir.35-3-136
Stacy Cooper
Charlotte Bloomberg Children’s Center, Johns Hopkins Hospital Baltimore, MD
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Clifford Takemoto
Charlotte Bloomberg Children’s Center, Johns Hopkins Hospital Baltimore, MD
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  1. Stacy Cooper, MD
  2. Clifford Takemoto, MD
  1. Charlotte Bloomberg Children’s Center, Johns Hopkins Hospital Baltimore, MD

Suggested Reading

  1. Von Willebrand Disease (VWD): Evidence-Based Diagnosis and Management Guidelines, The National Heart, Lung, and Blood Institute (NHLBI) Expert Panel Report (USA). Nichols W, Hultin MB, James AH, et al. Haemophilia. 2008;14(2):171–232
    OpenUrlCrossRefPubMed
  2. Bleeding Scores: Are They Really Useful? O’Brien SH. Am Soc Hematol Educ Program. 2012;2012(1):152–156
    OpenUrl
  3. Von Willebrand Disease. Montgomery G, Cox JG. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, Lantigua CJ. Nathan and Oski’s Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders; 2009:1487–1524
  • Author Disclosure

    Dr Cooper has disclosed no financial relationships relevant to this article. Dr Takemoto has disclosed a research grant from Novo Nordisk for hemophilia factor trials at Johns Hopkins University. This commentary does not contain discussion of unapproved/investigative use of a commercial product/device.

Von Willebrand disease (vWD) is an inherited bleeding diathesis. It is caused by quantitative or qualitative defects in von Willebrand factor (vWF), which functions to bind platelets to damaged endothelium and to stabilize factor VIII (FVIII). A range of mutations have been identified in this protein, encompassing the spectrum of single missense mutations to large deletions. Because of variation in the diagnostic criteria for vWD, debate exists regarding the prevalence; however, some studies estimate it to be as high as 1% to 2% of the population when including children and adults.

There are 3 major categories of vWD, classified as partial deficiency of vWF (type 1), functional defects (type 2), and complete deficiency of vWF (type 3). Type 2 can be further subcategorized based on the 4 subtypes of specific qualitative defects of the multimers (types 2A, 2B, 2M, and 2N). The different types of vWD vary in severity. Type 1 is the most common, an autosomal dominant disorder that comprises approximately 75% of vWD patients, and is usually confined to mild bleeding. Type 2 may demonstrate either dominant or recessive inheritance, and type 3 is autosomal recessive, with …

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Pediatrics in Review: 35 (3)
Pediatrics in Review
Vol. 35, Issue 3
1 Mar 2014
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Von Willebrand Disease
Stacy Cooper, Clifford Takemoto
Pediatrics in Review Mar 2014, 35 (3) 136-137; DOI: 10.1542/pir.35-3-136

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Von Willebrand Disease
Stacy Cooper, Clifford Takemoto
Pediatrics in Review Mar 2014, 35 (3) 136-137; DOI: 10.1542/pir.35-3-136
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