Factor V deficiency is a rare
bleeding disorder, which may be due to acquired inhibitors or biallelic mutations.
Factor V deficiency due to homozygous or compound heterozygous mutation (also known as
Owren's disease or
parahemophilia) has an estimated prevalence of one in one million people. A 22-year-old female was admitted for evaluation of longstanding
menorrhagia. Anatomic abnormalities were excluded, and prolonged prothrombin time (PT) and partial thromboplastin time (PTT) were identified. Mixing studies followed by specific factor assays and genetic testing enable identification of
factor V deficiency, for which fresh frozen plasma (FFP) or
factor V concentrates are therapeutic. Specific
clotting factor assay followed by mixing studies and genetic studies is essential for the diagnosis of congenital
factor V deficiency. Deranged PT and activated partial thromboplastin time (APTT) with normal
factor I level must be evaluated for the disorder of
clotting factors and must be managed by FFP administration or plasma-derived
factor V concentrate wherever available.