Genotypic and Phenotypic Analysis of Adolescents with Heavy Menstrual Bleeding and Low Von Willebrand Activity - Interim Report of a Multi-Center Study

Conclusion: Our study confirms the feasibility of a multi-center study in adolescent females with HMB and low VWF. All subjects had significant bleeding phenotype with elevated BAT and PBAC scores, with complications including anemia, iron deficiency, transfusion requirement, and hospitalization. Response to DDAVP challenge in subjects tested was good and sustained. Potential pathogenic gene variants, not only in VWF, but also in CF and PLT genes were found in 51% of the subjects, which may account for their bleeding phenotype. The separate or the combined presence of VWF, PLT and CF damaging gene variants does not appear to correlate with the subjects' bleeding severity in this interim analysis. A larger sample size and further analysis of gene variants may provide more information regarding the phenotype/genotype correlation in this patient population.Study supported by an investigator-initiated research grant from Baxalta US Inc., now part of ShireDisclosuresSrivaths: Shire: Research Funding. Kulkarni: Bioverativ: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Bayer: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; NovoNordisk: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Shire: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Octa Pharma: Honoraria, Membership on an entity'...
Source: Blood - Category: Hematology Authors: Tags: 322. Disorders of Coagulation or Fibrinolysis: Von Willebrand Disease: Advances in Diagnosis and Pathophysiology Source Type: research