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  • Von Willebrand disease type 1: a diagnosis in search of a disease
  • Sadler JE
  • Blood 2003[Mar]; 101 (6): 2089-93
  • 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% to 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 a specific hemorrhagic disease at all, 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 biologic context in which VWF functions. The problem may be avoided by substituting an empirical epidemiologic 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.
  • |False Positive Reactions[MESH]
  • |Hemorrhage/drug therapy/etiology/prevention & control[MESH]
  • |Humans[MESH]
  • |Risk Factors[MESH]
  • |von Willebrand Diseases/*diagnosis/epidemiology/genetics[MESH]
  • |von Willebrand Factor/analysis/therapeutic use[MESH]

  • *{{pmid12411289}}
    *<b>[ Von Willebrand disease type 1: a diagnosis in search of a disease ]</b> Blood 2003; 101(6) ; 2089-93 Sadler JE


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    2089 6.101 2003