Clinical Perspective of Congenital Vitamin K‐Dependent Coagulation Factor Deficiency

Review Article

Clinical Perspective of Congenital Vitamin K‐Dependent Coagulation Factor Deficiency

A Amir Kuperman ^{1 2} and Benjamin Brenner ¹

Affiliations: ¹Thrombosis and Hemostasis Unit, Institute of Hematology, Rambam Medical Center, and Bruce Rappaport Faculty of Medicine, Technion, Haifa,
Israel and ²Pediatric Hematology, Western Galilee Hospital, Naharriya, Israel

ABSTRACT

The “vitamin K system” requires the normal function of two enzymes: γ‐glutamyl carboxylase and vitamin K epoxide reductase enzyme complex (VKORC1). Heritable enzymatic dysfunction of the γ‐glutamyl carboxylase or the VKOR complex results in the secretion of poorly carboxylated vitamin K‐dependent proteins that play a role in coagulation. The following review focuses on the clinical perspectives of VKCFD (vitamin K‐dependent coagulation factors deficient) I and II, which have received increasing interest lately, and provides a brief explanation about the pathogenesis of the disease. Laboratory assays used for diagnosis are discussed, and management in various clinical settings is reviewed.

Keywords: vitamin K‐dependent coagulation factors deficiency (VKCFD), γ‐glutamyl carboxylase (GGCX), vitamin K epoxide reductase (VKOR)
Correspondence: Benjamin Brenner, Thrombosis and Hemostasis Unit, Institute of Hematology, Rambam Medical Center, and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel. Tel: (972)‐4‐8543520; Fax: (972)‐4‐8543886; e‐mail: b_brenner@rambam.health.gov.il