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Prepublished online as a Blood First Edition Paper on October 31, 2002; DOI 10.1182/blood-2002-09-2892.
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Blood, 15 March 2003, Vol. 101, No. 6, pp. 2089-2093
PERSPECTIVE
Von Willebrand disease type 1: a diagnosis in search of a
disease
J. Evan Sadler
From the Department of Medicine and the
Department of Biochemistry and Molecular Biophysics, Howard
Hughes Medical Institute, Washington University School of Medicine, St
Louis, MO.
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.
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