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Protein S deficiency

D Borgel1, S Gandrille, M Aiach

  • 1Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France. borgel@infobiogen.fr

Thrombosis and Haemostasis
|July 1, 1997
PubMed
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Protein S (PS) deficiency, a cofactor in the protein C (PC) pathway, increases the risk of recurrent thrombosis. Genetic mutations causing PS deficiency are diverse and impact allele expression, affecting thrombosis risk.

Area of Science:

  • Biochemistry
  • Hematology
  • Genetics

Background:

  • The protein C (PC) pathway, with its cofactor protein S (PS), is a critical natural antithrombotic mechanism.
  • Deficiency in protein S is linked to an increased risk of thrombotic events.

Purpose of the Study:

  • To summarize the clinical implications and molecular heterogeneity of hereditary protein S deficiency.

Main Methods:

  • Literature review of studies on protein S deficiency and thrombosis.
  • Analysis of genetic mutations affecting protein S function and expression.

Main Results:

  • Phenotypic protein S deficiency is associated with recurrent thrombosis in adulthood.
  • Individuals with PS deficiency have approximately a 50% chance of remaining thrombosis-free by age 45.

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  • Hereditary PS deficiencies exhibit significant molecular heterogeneity due to a wide spectrum of mutations.
  • Conclusions:

    • Protein S deficiency represents a significant risk factor for adult-onset recurrent thrombosis.
    • Understanding the molecular basis of PS deficiency is crucial for risk assessment and management.