Neonatal presentation of factor X deficiency

Abstract

Factor X is a Vitamin K-dependent serine protease synthesized in the liver. It is a key factor of the coagulation cascade as it is the first enzyme of a common pathway that leads to the formation of a stable fibrin clot. Both intrinsic and extrinsic pathways can lead to factor X activation. Inherited factor X deficiency is a rare autosomal recessive bleeding disorder. Inherited factor X deficiency is caused by mutations of the factor X gene that result in reduced or aberrant function of the factor X protein. Symptomatically, homozygous patients with severe hemorrhagic symptoms present early in the neonatal or childhood period, whereas symptomatic heterozygotes may bleed only after severe major surgery or trauma. Here, we present a case of neonate presented with bleeding manifestation. The clinical manifestation and hematological workup showed a severe factor X deficiency.

Keywords

• bleeding manifestation in neonates
• coagulation disorder
• factor x deficiency