Assessment of rare bleeding disorders in adolescents with heavy menstrual bleeding

• DOI: 10.1111/hae.14961
• Publication Date: 2024-02-22T15:34:58Z
• Authors: Ruchika Sharma; Victoria Johnson; Amy Pan; Austin Sellers; Marisol Betensky; Neil Goldenberg; Veronica H. Flood
• Keywords: Thromboelastography

Abstract Introduction There are a significant number of patients with mucocutaneous bleeding, specifically heavy menstrual bleeding (HMB), who do not have diagnosed disorder. These receive nontargeted interventions and may suboptimal treatments. Functional assays, particularly for fibrinolytic rare platelet function defects, robust readily available. Aim We aimed to prospectively evaluate the prevalence genetic defects associated disorders describe alterations coagulation fibrinolysis in cohort adolescents HMB. Methods performed prospective observational study HMB unexplained bleeding. The utilized next generation sequencing panel investigational global assays fibrinolysis. Additionally, specific functional were help characterize novel variants that identified. Results In 10 17 (∼59%), identified on molecular testing. Thrombin by calibrated thromboelastography was significantly altered this patient population. clot formation lysis assay showed trend towards increased rapid phase decline 23% patients. Further corresponding population described. Conclusion Our describes unique correlative model homogenous which inform future diagnostic algorithms, genotype–phenotype correlations as well aid targeted treatment approaches. Larger studies risk stratification improve health related outcomes