Hemorrhagic Shock after Neonatal Circumcision: Severe Congenital Factor XIII Deficiency

Abstract

A Caucasian male infant born full term via normal spontaneous vaginal delivery was given vitamin K after birth, circumcised on day of life (DOL) 1, and discharged from the nursery on DOL 2. At the time of circumcision, oozing from the surgical site was noted and initially resolved with silver nitrate. Over the next two days, he presented to local emergency rooms multiple times for recurrent bleeding, eventually developing hemorrhagic shock resulting in admission to the neonatal intensive care unit. After extensive work up, he was ultimately diagnosed with severe congenital factor XIII deficiency. Congenital factor XIII deficiency is a rare bleeding disorder characterized by normal prothrombin time (PT) and activated partial thromboplastin time (aPTT) coagulation labs on routine screening, and has a high risk of complications, such as spontaneous intracranial hemorrhage. Although uncommon, when caring for a child with bleeding, physicians must have a high index of suspicion to make this diagnosis in order to initiate proper treatment and start prophylaxis given the risk of morbidity and mortality in untreated patients.

Figure 1

Diagram of factor XIII activation and function. (a) Factor XIII is a protransglutaminase zymogen heterotetramer composed of two catalytic A subunits and two carrier B subunits. Thrombin cleaves the A subunits to make them catalytically active, followed by calcium-dependent dissociation of the B subunit to expose the active enzymatic site on the A subunit. (b) Activated factor XIIIa is then able to crosslink the fibrin strands, by catalyzing the formation of covalent bonds between glutamine and lysine residues on the fibrin a and g chains, resulting in a stable thrombus that is more resistant to degradation and less soluble.