Background: Protein C is a vitamin K-dependent coagulation protein that has a significant role in the regulation of thrombin. Homozygous protein C deficiency (HPDC) is a rare condition with a predicted prevalence of approximately 1:500,000 live births. The classical neonatal manifestation of homozygous protein C deficiency (HPCD) is a severe form of thrombosis of the large vessels, purpura fulminans and disseminated intravascular coagulation.

Aims: In this study, we aimed to report the clinical presentation, age at onset, genotype, and treatment modalities of 11 patients diagnosed with HPCD at Cukurova University, Adana, southern part of Turkey.

Methods: We retrospectively reviewed medical records of 11 patients with HPCD.

Results: Eleven patients with HPCD were included. six males and five females comprised the study population (n = 11). In all cases, purpura fulminans (PF) was typically seen in the neonatal periode with median day of 3 days (1-23 days). Fresh frozen plasma were given at a dose of 10-20 mL/kg every 6-12 h. Protein C concentrates were given in two patients. Anticoagulation therapy were initiated with administration of protein C replacement therapy (protein C concentrate or fresh frozen plasma) as long term secondary prophylaxis. Initial anticoagulation consists of either unfractionated heparin or low molecular weight heparin. As maintenance therapy, warfarine therapy was given. Blindness was seen in nine of eleven patients. The genetic study was carried out after obtaining an informed consent in seven patients. Four different PROC gene mutations were detected at these seven patients(c.1100T>C, c.658T>C, c.488C>A, c1361delC).

Conclusions: HPCD predisposes to reduce thrombin generation and a hypercoagulable. Laboratory and clinical findings, management of HPDC were limited due to its low prevalence. Increased evidence-based guidelines for the diagnosis and management of this patient population is required. In this study, we reported the cases and have encountered in management of patients with HPDC.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/clinical-presentation-and-management-of-homozygous-protein-c-deficiency-cukurova-experience/