Unraveling The Enigma of Factor V and Combined Factor V Factor VIII Deficiencies

Abstract

Rare coagulation disorders are uncommon but clinically significant conditions that often present with heterogeneous bleeding manifestations, posing diagnostic challenges in routine practice. While individual case reports contribute to clinical understanding, they frequently lack a structured framework for broader application. This article aims to extend existing case-based observations by Gangadaran N et al. by proposing a systematic and clinically applicable approach for the evaluation of rare coagulation disorders. Drawing upon current evidence and diagnostic principles, a stepwise framework is outlined that integrates detailed clinical assessment, standardized bleeding evaluation, and sequential laboratory investigations, including coagulation screening tests, mixing studies, and targeted factor assays. In addition, exploratory scoring approaches—namely the Integrated Hemostatic Diagnostic Score (IHDS) and a PT–aPTT–factor–based score—are proposed to support structured interpretation and risk stratification. These models are intended to guide diagnostic prioritization and improve consistency, particularly in settings where access to advanced testing is limited. The proposed framework also highlights potential diagnostic pitfalls, including the presence of inhibitors and overlapping conditions such as antiphospholipid syndrome, thereby emphasizing the need for careful interpretation of laboratory findings. Although these approaches are conceptual and not validated, they provide a pragmatic method to bridge the gap between isolated case descriptions and systematic clinical evaluation. Further studies are required to assess their diagnostic accuracy and clinical utility before routine implementation.