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Protein S (PS) is a critical regulator of coagulation that serves as a cofactor for activated protein C and tissue factor pathway inhibitor, as well as an inhibitor of activated factor IX. Hereditary PS deficiencies (HPSD) are an autosomal dominant genetic disease classified as both quantitative and qualitative. Affected patients often suffer from recurrent venous thrombosis. Reliable laboratory assays are essential for the accurate evaluation of plasma PS; however, because of the physiological interactions of PS in the plasma, assessing plasma PS levels can be difficult. Additionally, the presence of various acquired conditions can make the diagnosis of HPSD challenging.. PS activity and antigen assays, along with genetic analyses, are tools for the accurate diagnosis of HPSD. According to the current clinical testing algorithm for HPSD, all relevant PS assays are needed for the determination of the types of HPSD.

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Laboratory Diagnosis of Hereditary and Acquired Protein S Deficiencies

  • 章节

  • 发表日期：

    2025年

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  • Behnaz Tavasoli,
  • Taraneh Hoseinnezhad,
  • Nader Safarian,
  • Mahmood Shams

摘要

Protein S (PS) is a critical regulator of coagulation that serves as a cofactor for activated protein C and tissue factor pathway inhibitor, as well as an inhibitor of activated factor IX. Hereditary PS deficiencies (HPSD) are an autosomal dominant genetic disease classified as both quantitative and qualitative. Affected patients often suffer from recurrent venous thrombosis. Reliable laboratory assays are essential for the accurate evaluation of plasma PS; however, because of the physiological interactions of PS in the plasma, assessing plasma PS levels can be difficult. Additionally, the presence of various acquired conditions can make the diagnosis of HPSD challenging.. PS activity and antigen assays, along with genetic analyses, are tools for the accurate diagnosis of HPSD. According to the current clinical testing algorithm for HPSD, all relevant PS assays are needed for the determination of the types of HPSD.