PROS1 (Cys228Tyr) missense mutation associated with mesenteric and pulmonary venous thromboembolism during the COVID-19 pandemic: a case report
Research article published in Frontiers in cardiovascular medicine (2025)
Abstract
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.
Abstract sourced from PubMed (NCBI) for the cited record. See the original publication for the authoritative version.
Resumen
Peer-reviewed clinical and outcomes research relevant to medicinal leech therapy and its biology. Indexed in PubMed and verified against the NCBI record.
Por qué esto importa para la hirudoterapia
Este reporte de caso único describe a un hombre de 32 años que desarrolló trombosis venosa mesentérica y embolia pulmonar vinculadas a una mutación missense heterocigota de PROS1 (Cys228Tyr) que causó deficiencia de proteína S, en un contexto de COVID-19 y múltiples factores de riesgo adquiridos; fue tratado con heparin de bajo peso molecular y posteriormente con rivaroxabán, sin recurrencias durante un año de seguimiento. Para ASH, el valor es contextual más que directo: ilustra los estados hipercoagulables hereditarios y adquiridos que definen la VTE, el territorio clínico donde se origina la tradición de los anticoagulantes de sanguijuelas medicinales, ya que la hirudin (el inhibidor de la trombina salival de la sanguijuela) es el prototipo histórico que impulsó el descubrimiento moderno de fármacos anticoagulantes directos. La advertencia honesta es doble: se trata de un reporte de caso único (el nivel de evidencia más débil, únicamente generador de hipótesis, no generalizable) y estudia anticoagulantes farmacológicos convencionales sin que haya intervenido terapia con sanguijuelas ni agentes derivados de estas, por lo que debe leerse únicamente como antecedente sobre el espacio problemático de la trombosis.
Citación
PROS1 (Cys228Tyr) missense mutation associated with mesenteric and pulmonary venous thromboembolism during the COVID-19 pandemic: a case report.
Huang et al. · Frontiers in cardiovascular medicine, 2025
Contexto clínico relacionado
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Añadido a la biblioteca ASH: May 29, 2026 · Última actualización del sitio: June 18, 2026