Liver Transplantation as a Definitive Treatment for Homozygous Protein C Deficiency

Protein C is a vitamin K-dependent anticoagulant glycoprotein that inhibits activated factors V and VIII once activated by thrombin while promoting fibrinolysis. Patients with homozygous protein C deficiency generally present shortly after birth with purpura fulminans, retinal hemorrhage, and signs of the central nervous system or renal thrombosis. This case reports the first case of homozygous protein C deficiency in the UAE successfully treated with liver transplantation. This article aims to emphasize the importance of early diagnosis of neonatal purpura fulminans based on clinical presentation and to maintain a high index of suspicion for protein C deficiency. It seeks to illustrate that liver transplantation can effectively restore protein C activity, offering a life-saving treatment for a condition that would otherwise be devastating. Additionally, in resource-limited settings, the article highlights the potential use of fresh frozen plasma (FFP) as an alternative to protein C concentrate for supporting protein C levels during the perioperative period. We present an eight-year-old female who was diagnosed with protein C deficiency at birth in her home country following the onset of purpura fulminans. She received regular FFP transfusions but continued to experience complications such as blindness, leg contractures, and infections despite treatments with protein C concentrate and warfarin. Seeking further care, she was evaluated in the UAE for liver transplantation, a potentially curative treatment for this disorder. After being placed on the national transplant waiting list, the patient underwent a successful liver transplantation from a deceased donor. Perioperative management included careful monitoring of protein C levels and blood products to prevent thrombotic and bleeding complications. Her protein C activity normalized post-transplant, and there were no thrombotic events. This case highlights the potential of liver transplantation as a definitive cure for homozygous protein C deficiency. In conclusion, liver transplantation should be considered as a definitive treatment for children with homozygous protein C deficiency who experience recurrent thrombotic events despite replacement therapy and for those with severely impaired quality of life due to the disease itself. The decision to proceed with transplantation should be made with careful consideration of the patient's long-term quality of life and the balance between transplant-related risks and the benefits of avoiding continuous anticoagulation therapy.