Acute pulmonary thromboembolism caused by factor V Leiden mutation in South Korea: A case report

RATIONALE: Although Factor V Leiden (FVL) mutation is a major cause of inherited thrombophilia in Western populations; the mutation is extremely rare in Asia. PATIENT CONCERNS: Here we report a case of a 28-year old Korean woman admitted to our hospital with extensive pulmonary embolism. DIAGNOSIS: She was heterozygous for FVL mutation up on evaluation, and screening for asymptomatic family members also revealed heterozygous FVL mutation for her mother. INTERVENTIONS: Enoxaparin 1 mg/kg was initiated, followed by rivaroxaban 15 mg every 12 hours. OUTCOMES: The patient showed improvement in both subjective dyspnea and right ventricular dysfunction and was successfully discharged after five hospital days. LESSONS: FVL mutation screening may be considered in Asian patients with thrombophilia of uncertain etiology in the future.