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Congenital protein C deficiency and thrombotic disease in nine French families
Insights
Protein C deficiency, a blood clotting disorder, was identified in 22 patients. This condition is linked to a higher risk of venous and arterial thromboembolism, especially in younger individuals without apparent triggers.
Area of Science:
- Hematology
- Genetics
- Clinical Medicine
Background:
- Protein C deficiency is a rare inherited disorder affecting blood coagulation.
- It is associated with an increased risk of thromboembolic events.
Purpose of the Study:
- To investigate the prevalence and clinical characteristics of protein C deficiency in a patient cohort.
- To analyze the association between protein C levels and thromboembolic disease.
- To explore the inheritance pattern of protein C deficiency within families.
Main Methods:
- Screening of 118 patients using immunological and functional assays for protein C deficiency.
- Detailed clinical history collection, including thromboembolic events and family history.
- Analysis of protein C antigen concentrations in patients with and without oral anticoagulant treatment.
Main Results:
- Twenty-two patients (18.6%) were identified with protein C deficiency.
- Fifteen patients had a history of venous thromboembolism, and one had arterial thromboembolism.
- Probands with deficiency often presented with early-onset thromboembolism, no precipitating condition, and a family history, suggesting autosomal dominant inheritance.
- Thromboembolic episodes occurred at protein C antigen concentrations below 0.6 U/ml.
- Severe deficiency (0.16 U/ml) was linked to skin necrosis upon initiating oral anticoagulants.
Conclusions:
- Protein C deficiency is an important risk factor for thromboembolic disease, particularly in younger individuals.
- Early diagnosis and genetic counseling are crucial for families with inherited protein C deficiency.
- Careful management, including monitoring protein C levels and considering anticoagulation risks, is necessary for affected patients.
Abstract:
Investigation of 118 patients for protein C deficiency using an immunological and a functional assay, and subsequent investigation of those (nine) found to be deficient, identified 22 patients (14 women, eight men) with protein C deficiency, of whom six were asymptomatic, 15 had histories of venous thromboembolism, and one had a history of arterial thromboembolism. Protein C deficiency was associated in the nine probands with young age at first episode of thromboembolic disease (mean 24.1 (SD 11.9) years), absence of a precipitating condition (five (56%], and a family history of thromboembolic disease (six (66%]. Investigation of the nine families suggested autosomal dominant transmission of the defect. Thromboembolic episodes were seen in patients with protein C antigen concentrations below 0.6 U/ml. Mean (SD) protein C antigen concentrations were 0.48 (0.12) U/ml in 18 patients not receiving oral anticoagulant treatment and 0.28 (0.05) U/ml in four receiving such treatment. One patient with severe protein C deficiency (0.16 U/ml) developed skin necrosis soon after starting oral anticoagulant treatment.