Diagnosis and Management of an Infant with Hereditary Protein C Deficiency with Compound Mutation of PROC Gene

Hereditary protein C deficiency (HPCD) is a rare hereditary thrombophilia leading to thromboembolic events during the neonatal period. We reported a case of Chinese newborn with HPCD, presenting with purpura fulminans. She was diagnosed as HPCD at 6 months old. Coagulation studies showed prolonged PT and APTT, low fibrinogen and high D-dimer levels. The circulating protein C level was only 1%. She was originally misdiagnosed as having sepsis but not properly diagnosed and treated until admission to our hospital at the age of 6 months. Daily infusion of fresh frozen plasma was used as the initial treatment since protein C concentrates were not available. Warfarin was used as a long-term treatment to prevent thrombotic events, with regular international normalized ratio and D-dimer level being monitored. Genetic analysis showed compound heterozygous mutation. Early diagnosis is very important for prompt life-saving treatment. This was the youngest surviving patient reported in China.HPCD is rare in China. Recognition of the special skin lesions is important. Fresh frozen plasma and anticoagulant combined with oral warfarin were used with good effects in the treatment, which could be an alternative when protein C concentrate is not easily available in the developing countries.