A S Faiz1, A Kaveney1, S Guo1, S Murphy2, C S Philipp1. 1. Division of Hematology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA. 2. Department of Pediatric Hematology-Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.
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.
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 VWDpatients for haemostatic evaluation. METHODS: Ninety-four reproductive age women including 41 previously untested family members of VWDpatients, 26 previously diagnosed VWDpatients 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% VWDpatients, and 19% controls (P < 0.001). Combined with low ferritin, the modified Screening Tool was positive in 66% family members, 92% VWDpatients, 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.
Authors: Mohamad A Kalot; Nedaa Husainat; Sammy Tayiem; Abdallah El Alayli; Ahmad B Dimassi; Osama Diab; Omar Abughanimeh; Bader Madoukh; Aref Qureini; Barbara Ameer; Jorge Di Paola; Jeroen C J Eikenboom; Vicky Jacobs-Pratt; Claire McLintock; Robert Montgomery; James S O'Donnell; Robert Sidonio; Romina Brignardello-Petersen; Veronica Flood; Nathan T Connell; Paula D James; Reem A Mustafa Journal: Blood Adv Date: 2021-12-14