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Semin Thromb Hemost 2025; 51(02): 111-115
DOI: 10.1055/s-0044-1789021
Review Article

Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency

Massimo Franchini
1   Department of Hematology and Transfusion Medicine, Carlo Poma Hospital, Mantua, Italy
,
Daniele Focosi
2   North-Western Tuscany Blood Bank, Pisa University Hospital, Pisa, Italy
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Abstract

Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays. Several mutations, including missense, nonsense, and frameshift, have been detected in the F5 gene. Clinical symptoms are variable, ranging from mild ecchymoses and mucosal bleeding to life-threatening intracranial hemorrhage. The mainstay of treatment includes fresh-frozen plasma, preferentially virus-inactivated. In this narrative review, we provide an update of the main laboratory, molecular, clinical, and therapeutic features of inherited FV deficiency.

Keywords

factor V deficiency - inherited - bleeding - therapy


Publikationsverlauf

Artikel online veröffentlicht:
27. August 2024

© 2024. Thieme. All rights reserved.

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