Abstract

Combined deficiency of factor V (FV) and FVIII (F5F8D) is a rare bleeding disorder. As per other rare autosomal recessive disorders, F5F8D is often associated with consanguinity [1]. F5F8D is suspected in bleeding patients with prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT). Diagnosis is made on laboratory findings of decreased FV and FVIII levels in plasma, usually in the range of 5–30% of normal (typically 10–20%) [1]. Ultimate confirmation of F5F8D comes from the identification of mutations in either LMAN1 or MCFD2 which is done on a research basis in few medical centers [1]. Fortunately, clinical management of F5F8D does not rely on molecular diagnosis [1]. Symptoms of F5F8D are generally mild. Common spontaneous bleeding symptoms include epistaxis, gum bleeding, easy bruising, and menorrhagia. Less frequently reported are hemarthroses, gastrointestinal bleeding, hematuria, and intracranial bleeding. In males, bleeding due to circumcision is frequently reported in regions where it is commonly practiced. In females, menorrhagia is found in a majority of patients in all reported studies.

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