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Congenital protein C deficiency
Protein C deficiency

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Prevalence of clinical parameters (%)







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Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Deep vein thrombosis circulatory 59 % 6437521 2012-01-11
Superficial thrombophlebitis circulatory 32 % 6437521 2012-01-11
Pulmonary embolism circulatory 23 % 6437521 2012-01-11



List of references:


Congenital protein C deficiency and thrombotic disease in nine French families.
M H Horellou, J Conard, R M Bertina, M Samama,

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.

British medical journal (Clinical research ed.) - Nov 1984


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