Key result
Inherited protein C deficiency due to two PROC mutations (c.1152C>G and c.1207G>T) was associated with recurrent deep venous thrombosis in a single patient.
Case Report (n=1)
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Inherited protein C deficiency due to specific PROC mutations can cause recurrent VTE, for which long-term anticoagulant therapy may be appropriate.
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency.
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Xie et al. (2017) conducted a case report in Hereditary protein C deficiency with recurrent deep venous thrombosis (n=1). PROC mutations (c.1152C>G, p.N384K and c.1207G>T, p.G403W) was evaluated on Recurrent venous thromboembolism. Inherited protein C deficiency due to two PROC mutations (c.1152C>G and c.1207G>T) was associated with recurrent deep venous thrombosis in a single patient.
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