Liver transplantation as a novel strategy for resolution of congenital afibrinogenemia in a pediatric patient

Abstract

Fibrinogen plays a central role in hemostasis, specifically in clot formation and stabilization. 1 Congenital fibrinogen disorders are rare, affecting ~1 to 2 in every million people worldwide. 2 Although healthy individuals have a plasma fibrinogen level ranging from 150 to 450 mg/dL, those with afibrinogenemia have undetectable levels of circulating fibrinogen. 3,4 Symptoms, including frequent and/or severe bleeding episodes, typically present in the neonatal period. 5,6 A study of 100 patients with congenital fibrinogen deficiency found that among patients with severe deficiency, hemarthroses were the most common type of bleed, and came with a risk of progressive musculoskeletal damage. 2 In patients with congenital afibrinogenemia, fibrinogen replacement therapy is recommended in case of acute hemorrhagic episodes and/or when undergoing surgical procedures. 7,8 Although not routinely used, long-term prophylaxis is recommended for those presenting with recurrent and severe bleeding episodes, and for female patients during pregnancy. 9