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Related Experiment Videos

Hereditary protein S deficiency.

R M Bertina

    Haemostasis
    |January 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    Isolated protein S deficiency, an autosomal-dominant disorder, increases the risk of venous thrombosis. This condition affects cofactor activity of activated protein C (APC), crucial for blood clotting regulation.

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    Area of Science:

    • Biochemistry
    • Hematology
    • Genetics

    Background:

    • Protein S is a vitamin K-dependent plasma protein.
    • It acts as a cofactor for activated protein C (APC).
    • Free protein S, not bound to C4b-binding protein, possesses APC cofactor activity.

    Purpose of the Study:

    • To identify and characterize patients with isolated protein S deficiency.
    • To investigate the inheritance pattern and clinical implications of this deficiency.

    Main Methods:

    • Patient data analysis from 8 nonrelated families.
    • Clinical assessment for venous thrombotic disease.
    • Genetic analysis to determine inheritance patterns.

    Main Results:

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  • 30 patients with isolated protein S deficiency were identified.
  • The deficiency was inherited as an autosomal-dominant disorder.
  • Heterozygous patients were at increased risk for early-onset venous thrombotic disease.

    • Conclusions:

    • Isolated protein S deficiency is a significant risk factor for venous thrombosis.
    • Early diagnosis and management are crucial for affected individuals.
    • Understanding protein S function is vital for hemostasis research.