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
