Key result
A novel heterozygous missense mutation in PROS1 (c.683G>A, p.Cys228Tyr) was identified as the likely genetic basis for recurrent venous thromboembolism in a 32-year-old man.
Why the study?
Does LMWH followed by rivaroxaban prevent VTE recurrence and bleeding in a patient with a PROS1 missense mutation and COVID-19?
Case Report (n=1)
Does LMWH followed by rivaroxaban prevent VTE recurrence and bleeding in a patient with a PROS1 missense mutation and COVID-19?
Long-term anticoagulant therapy with rivaroxaban was effective and safe in managing recurrent VTE in a patient with a novel PROS1 missense mutation and acquired risk factors including COVID-19.
Supports PROS1 testing consideration in select young VTE patients with infection; hypothesis-generating and requires validation in larger cohorts.
Background Venous thromboembolism (VTE) is influenced by both genetic and acquired risk factors, with protein S (PS) deficiency recognized as a well-established inherited thrombophilia. Introduction: We report the case of a 32-year-old male patient presenting with mesenteric venous thrombosis and pulmonary embolism caused by a missense mutation in PROS1 during the COVID-19 pandemic. Methods The patient presented with pleuritic chest pain and low-grade fever 15 days after a confirmed COVID-19 infection. Despite initial treatment with glucocorticoids and a macrolide antibiotic, his symptoms worsened and his D-dimer level increased. CT pulmonary angiography confirmed an acute pulmonary embolism. Results Clinical history revealed a prior episode of mesenteric vein thrombosis and multiple acquired risk factors, including obesity, sedentariness, COVID-19 infection, glucocorticoid treatment, inflammatory response (elevated CRP and serum ferritin levels), and metabolic abnormalities (non-alcoholic fatty liver disease, hyperuricemia, and hyperlipidemia). Laboratory testing showed decreased PS activity, and genetic sequencing identified a heterozygous missense mutation in PROS1 , c.683G>A (p.Cys228Tyr). The patient was treated with low-molecular-weight heparin (LMWH) followed by rivaroxaban. Discussion: No recurrence of VTE of bleeding events was observed during a one-year follow-up, suggesting effective management of thrombosis in the context of both inherited and acquired prothrombotic conditions.
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Huang et al. (2025) conducted a case report in Venous thromboembolism (n=1). PROS1 (c.683G>A, p.Cys228Tyr) missense mutation was evaluated on Venous thromboembolism. A novel heterozygous missense mutation in PROS1 (c.683G>A, p.Cys228Tyr) was identified as the likely genetic basis for recurrent venous thromboembolism in a 32-year-old man.
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