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

Abstract

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.

Figure 1

Contrast-enhanced computed tomography at initial visit. (A, B) Thromboembolism in both main pulmonary arteries and upper, middle, and lower lobar pulmonary arteries (arrow indicates the right and left pulmonary arteries, respectively) (C) Deep vein thrombosis in the left popliteal vein (dotted arrow).

Figure 2

Pedigree analysis carrying the Factor V Leiden mutation. Men and women are shown as squares and circles, respectively. Half solid symbols represent individuals heterozygous for Factor V Leiden mutation. Our index patient is indicated with an arrow.