Combined factor V and factor VIII deficiency: A report of a case, genetic analysis, and response to desmopressin acetate

摘要

Combined factor V and factor VTII deficiency (F5F8D) is a rare, autosomal recessive congenital bleeding disorder with a prevalence of 1:1,000,000. Individuals present with a variable clinical bleeding phenotype, elevated prothrombin time (PT) and partial thromboplastin time (PTT), and plasma levels of factor V and VIII of 5-30%. Mutations in 2 proteins, LMAN1 and MCFD, required for concurrent transport of FV and FVIII through the Golgi apparatus and endoplasmic reticulum, have been identified in these patients.