Harmanpreet Kaur1, Margareth Ozelo2, Stephen Scovil3, Paula D James4, Maha Othman5. 1. Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada. 2. Faculty of Medical Sciences, University of Campinas, Sao Paulo, Brazil. 3. New Atom Technologies Inc, Kingston, Ontario, Canada. 4. Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada. 5. Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada School of Baccalaureate Nursing, St Lawrence College, Kingston, Ontario, Canada othman@queensu.ca.
Abstract
OBJECTIVE: To investigate the utility of an electronic version of the condensed molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (VWD) bleeding questionnaire (eBQ) in assessing the bleeding phenotype in platelet-type VWD (PT-VWD) and compare it to its closely similar disorder, type 2B VWD. METHODS: Retrospective analysis of the clinical bleeding and laboratory phenotype of 13 patients with PT-VWD and 12 type 2B VWD. RESULTS: Bleeding score (BS) was significantly lower in PT-VWD as compared to type 2B. Bleeding score correlated with platelet count and von Willebrand factor:Ristocetin cofactor activity in PT-VWD but not in type 2B with a significant reduction in platelet count in type 2B VWD compared to PT-VWD. The eBQ had sensitivity of 62% in PT-VWD and 92% in type 2B VWD. CONCLUSION: Objective analysis of bleeding symptoms further the understanding of the phenotype of 2 closely similar bleeding disorders for better diagnosis and follow-up. Larger international prospective studies are warranted to evaluate the utility of the eBQ in PT-VWD and other rare bleeding disorders.
OBJECTIVE: To investigate the utility of an electronic version of the condensed molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (VWD) bleeding questionnaire (eBQ) in assessing the bleeding phenotype in platelet-type VWD (PT-VWD) and compare it to its closely similar disorder, type 2B VWD. METHODS: Retrospective analysis of the clinical bleeding and laboratory phenotype of 13 patients with PT-VWD and 12 type 2B VWD. RESULTS:Bleeding score (BS) was significantly lower in PT-VWD as compared to type 2B. Bleeding score correlated with platelet count and von Willebrand factor:Ristocetin cofactor activity in PT-VWD but not in type 2B with a significant reduction in platelet count in type 2B VWD compared to PT-VWD. The eBQ had sensitivity of 62% in PT-VWD and 92% in type 2B VWD. CONCLUSION: Objective analysis of bleeding symptoms further the understanding of the phenotype of 2 closely similar bleeding disorders for better diagnosis and follow-up. Larger international prospective studies are warranted to evaluate the utility of the eBQ in PT-VWD and other rare bleeding disorders.
Authors: Paula D James; Nathan T Connell; Barbara Ameer; Jorge Di Paola; Jeroen Eikenboom; Nicolas Giraud; Sandra Haberichter; Vicki Jacobs-Pratt; Barbara Konkle; Claire McLintock; Simon McRae; Robert R Montgomery; James S O'Donnell; Nikole Scappe; Robert Sidonio; Veronica H Flood; Nedaa Husainat; Mohamad A Kalot; Reem A Mustafa Journal: Blood Adv Date: 2021-01-12
Authors: Loredana Bury; Emanuela Falcinelli; Haripriya Kuchi Bhotla; Anna Maria Mezzasoma; Giuseppe Guglielmini; Alexander Tischer; Laurie Moon-Tasson; Matthew Auton; Paolo Gresele Journal: Blood Adv Date: 2022-04-12