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  2. Combined deficiency of vitamin K-dependent clotting factors

Combined deficiency of vitamin K-dependent clotting factors

Definition:

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors protein C, protein S, and protein Z. VKCFD leads to a bleeding tendency with a variegate clinical picture. Two subtypes have been identified, deriving from mutations of two enzymes of the vitamin K cycle. VKCFD type1 is defined by defective GGCX activity, while VKCFD type 2 derives from functional deficiency of VKORC.

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