ArticleFrontiers in cardiovascular medicine2026
Case Report: Severe protein S deficiency unmasks a cryptic
Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: In young patients presenting with high-risk, idiopathic pulmonary thromboembolism (PTE), prompt identification of the underlying prothrombotic state is critical. Inherited deficiencies of protein C (PC) and protein S (PS) are predominant risk factors in Asians. However, routine functional assays for PC/PS activity may not capture the full genetic risk. Specifically, the clinical significance of a pathogenic Case presentation: A previously healthy 20-year-old male presented with sudden-onset high-risk pulmonary thromboembolism and obstructive shock. Despite systemic thrombolysis, he progressed to refractory shock and was successfully rescued with VA-ECMO bridging to percutaneous mechanical thrombectomy. Coagulation workup revealed severely reduced PS activity (28.3%); notably, protein C activity was normal at 99.7%. Genetic testing identified heterozygous pathogenic mutations in Conclusions: This case demonstrates that severe PS deficiency can unmask the thrombogenic potential of a pathogenic
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