Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high-risk population.
BACKGROUND
Family members of Von Willebrand disease (VWD) patients may have low levels of VWF without major bleeding episodes and often remain undiagnosed.


OBJECTIVE
The purpose of this study was to assess the utility of a modified Screening Tool in identifying previously untested reproductive age female family members of VWD patients for haemostatic evaluation.


METHODS
Ninety-four reproductive age women including 41 previously untested family members of VWD patients, 26 previously diagnosed VWD patients and 27 healthy controls were administered a modified Screening Tool and had blood drawn for CBC, ferritin, and VWF testing. Participants completed a pictorial blood assessment chart (PBAC) with menses.


RESULTS
The modified Screening Tool was positive in 32% family members, 77% VWD patients, and 19% controls (P < 0.001). Combined with low ferritin, the modified Screening Tool was positive in 66% family members, 92% VWD patients, and 44% controls (P = 0.001). In family members, incorporating low ferritin with the modified Screening Tool resulted in a sensitivity of 86% (95% CI, 42-100) and negative predictive value of 93% (95% CI, 66-100). In the control group, NPV was between 92% and 95% for the modified Screening Tool and also for the modified Screening Tool combined with low ferritin or a positive PBAC.


CONCLUSIONS
These data in a racially diverse population suggest the usefulness of a simple, easy to administer modified Screening Tool. In conjunction with ferritin it could be used in a primary care setting to stratify reproductive age women with a family history of VWD for haemostatic evaluation.
Division of Hematology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
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Faiz
Division of Hematology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
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Kaveney
Division of Hematology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
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Guo
Department of Pediatric Hematology-Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.
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Murphy
Division of Hematology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
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Philipp
D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D005190:Family; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D011159:Population Surveillance; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012737:Sex Factors; D055815:Young Adult; D014842:von Willebrand Diseases / Q000175:diagnosis / Q000453:epidemiology*; D014841:von Willebrand Factor
D014841:von Willebrand Factor
bleeding symptoms; inherited bleeding disorder; screening tool; von Willebrand disease; von Willebrand factor