Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high‐risk population. Issue 5 (8th February 2017)

• Record Type: Journal Article
• Authors: Faiz, A. S.; Kaveney, A.; Guo, S.; Murphy, S.; Philipp, C. S.
• Is Part Of: Haemophilia. Volume 23:Issue 5(2017)
• Page Start: 736
• Page End: 742
• Publication Date: 2017-02-08
• Subjects: bleeding symptoms -- inherited bleeding disorder -- screening tool -- von Willebrand disease -- von Willebrand factor; Hemophilia -- Periodicals; 616.1572005
• DOI: 10.1111/hae.13188
• Languages: English
• ISSNs: 1351-8216

Abstract

Abstract : Introduction: Family members of Von Willebrand disease (VWD) patients may have low levels of VWF without major bleeding episodes and often remain undiagnosed. Aim: 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. Conclusion: 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.