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Peculiar laboratory phenotype/ genotype relationship due to compound inherited protein C defects in a child with

Cristiana Bulato, Elena Campello, Sabrina Gavasso

    Hamostaseologie
    |March 15, 2018
    PubMed

    Insights

    A child with severe blood clots had a complex inherited thrombophilia. This case highlights how a seemingly normal protein C level can mask serious genetic defects, impacting treatment decisions.

    Area of Science:

    • Hematology
    • Genetics
    • Pediatrics

    Background:

    • Inherited thrombophilia increases the risk of venous thromboembolism (VTE).
    • Protein C (PC) deficiency is a significant inherited risk factor for VTE.
    • Accurate diagnosis of PC defects is crucial for patient management.

    Observation:

    • A 7-year-old child presented with unprovoked deep vein thrombosis (DVT) and pulmonary embolism (PE).
    • Genetic testing revealed compound heterozygous mutations in the Protein C gene, leading to a Type I (null allele) and Type IIA defect.
    • The child also carried a heterozygous prothrombin G20210A variant.

    Findings:

    • The patient exhibited a homozygous PC Type IIA phenotype despite carrying a Type I defect allele.
    • The apparently normal PC antigen level was misleading, masking the compound defect.
    • This complex thrombophilia contributed to the severe VTE event in the child.

    Implications:

    • Severe VTE can occur in children with complex inherited thrombophilia.
    • Precise laboratory characterization of PC defects, considering both phenotype and genotype, is essential.
    • Correct classification of PC defects guides appropriate anticoagulant or replacement therapy.

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