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Prepublished online as a Blood First Edition Paper on October 31, 2002; DOI 10.1182/blood-2002-09-2892. This Article Full Text (PDF) Erratum (v102,p801) All Versions of this Article: 2002-09-2892v1 101/6/2089    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Sadler, J E. Search for Related Content PubMed PubMed Citation Articles by Sadler, J E. Social Bookmarking                   What's this? Submitted September 23, 2002 Accepted October 28, 2002 Von Willebrand disease type 1: a diagnosis in search of a disease J Evan Sadler* Howard Hughes Medical Institute, St. Louis, MO, USA; Department of Medicine, Washington University, St. Louis, MO, USA * Corresponding author; email: esadler{at}im.wustl.edu. Von Willebrand disease (VWD) type 1 is reported to be common but frequently is difficult to diagnose. Many people have nonspecific mild bleeding symptoms, von Willebrand factor (VWF) levels display low heritability, and low VWF levels (15%-50% of normal) are weak risk factors for bleeding. Therefore, bleeding and low VWF levels often associate by chance. Even with stringent diagnostic criteria based on a triad of bleeding symptoms, a low VWF level and a positive family history, the prevalence of "false positive" VWD type 1 is comparable to the published prevalence of the disease. Consequently, many patients diagnosed with VWD type 1 do not have an inherited hemorrhagic disease but are in fact normal, which limits the utility of the diagnosis. This unfortunate reality is a consequence of trying to force patients into binary categories of diseased or healthy that are incompatible with the continuous biological context in which VWF functions. The problem may be avoided by substituting an empirical epidemiological approach like that applied to other modest risk factors for disease such as elevated cholesterol and high blood pressure. Such a risk-management strategy could be generalized to include other hemorrhagic and thrombotic risk factors. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: F. Rodeghiero, G. Castaman, and A. Tosetto How I treat von Willebrand disease Blood, August 6, 2009; 114(6): 1158 - 1165. [Abstract] [Full Text] [PDF] A. Tosetto, G. Castaman, and F. 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