E ISSN: 2583-049X

International Journal of Advanced Multidisciplinary Research and Studies

Volume 4, Issue 3, 2024

A Case of Antiphospholipid Syndrome and Protein C Deficiency due to PROC Gene Mutation

Author(s): Hao Thai Phan

DOI: https://doi.org/10.62225/2583049X.2024.4.3.2829


Patient with Antiphospholipid syndrome has a poor outcome. Though it has some special diagnostic criteria and therapeutic options, best treatment options are yet to specify. Inherited thrombophilias are also associated with adverse pregnancy outcomes, although the evidence is less compelling. Protein C is a vitamin K-dependent anticoagulant which plays a vital role in the regulation of coagulation. Deficiency of Protein C leads to thromboembolism. Protein C is an anticoagulant that is encoded by the PROC gene. Protein C deficiency is inherited in an autosomal dominant or recessive pattern. Autosomal dominant Protein C deficiency is caused by monoallelic mutations in PROC and often presents with venous thromboembolism. On the other hand, biallelic PROC mutations lead to autosomal recessive Protein C deficiency which is a more severe disease that typically presents in neonates as purpura fulminans. In this report, we describe an 65-year-old man who presented with intracranial venous thrombosis. After diagnosis of both antiphospholipid antibody and Protein C deficiency, he was treated with anti-vitamin K anticoagulant. Here we are focusing on pathogenesis and treatment aspect of the two conditions.

Keywords: Antiphospholipid Syndrome, Protein C Deficiency, Intracranial Venous Thrombosis

Pages: 609-611

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