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Deficiency of protein C in congenital thrombotic disease

J H Griffin, B Evatt, T S Zimmerman

    The Journal of Clinical Investigation
    |November 1, 1981
    PubMed

    Insights

    This study identified an inherited deficiency in protein C, a key plasma protein, as the cause of recurrent thrombosis in a family. Lower protein C levels were observed in affected individuals, suggesting a genetic link to blood clotting disorders.

    Area of Science:

    • Biochemistry
    • Genetics
    • Hematology

    Background:

    • Recurrent thrombosis poses a significant health risk.
    • Investigating genetic factors for thrombotic disorders is crucial.
    • Plasma protein deficiencies can predispose individuals to clotting.

    Observation:

    • A family presented with a history of recurring thrombosis.
    • Protein C antigen levels were measured using the Laurell rocket technique.
    • Severely affected members showed 38-49% of normal protein C levels, while unaffected members had normal levels.

    Findings:

    • A significant deficiency in protein C antigen was identified in affected family members.
    • No familial deficiency was found for antithrombin III or plasminogen.
    • The observed protein C deficiency correlated with the incidence of thrombosis within the family.

    Implications:

    • Inherited protein C deficiency is a likely cause of recurrent thrombosis in this family.
    • Understanding protein C's role in coagulation is vital for managing thrombotic risks.
    • Genetic screening for protein C deficiency may aid in predicting and preventing thrombotic events.

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