Vitamin K Dependent Clotting Factors Deficiency

Hereditary combined deficiency of the vitamin k dependent coagulation factors is a rare bleeding disorder.

Vitamin k dependent clotting factors deficiency. Many types of food contain vitamin k and it is rare to have a deficiency. Fmcfds are characterized by the simultaneous decrease in the levels of two or more coagulation factors. Hereditary combined vitamin k dependent clotting factors deficiency vkcfd is a rare inherited coagulation defect that forms part of a wider group of rare disorders named familial multiple coagulation factor deficiencies fmcfds. The phenotype varies considerably with respect to bleeding tendency response to vitamin k substitution and the presence of s.

Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin k. Inherited combined deficiency of the vitamin k dependent clotting factors vkcfd is a very rare inherited bleeding disorder that is caused by a problem with clotting factors ii vii ix and x. Hereditary combined vitamin k dependent clotting factors deficiency vkcfd is a rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors ii vii ix and x as well as natural anticoagulants protein c protein s and protein z. In order to continue the chain reaction of the coagulation cascade these four factors.

Without the activation step certain biochemical reactions cannot be completed. Vitamin k is an essential cofactor in the activation of certain proteins within your body 1. Deficiency of all vitamin k dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin k. Familial multiple coagulation factor deficiency is rare.

Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin k. Vitamin k plays a role in your blood clot formation and bone health. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life. The function of each of the vitamin k dependent proteins vkdp depends upon normal gamma ƴ carboxylation of a number of glutamic acid residues in the amino terminal region of the proteins the gla domain.

1 this reaction requires normal cycling of vitamin k from its reduced form to the oxidized state followed by regeneration of reduced vitamin k. To date only eleven families have been reported in the literature. 2 3 these reactions are accomplished via. Familial multiple coagulation factor deficiency is rare.

Deficiency of vitamin k leads to decreased activity of vitamin k dependent coagulation factors ii vii ix x. Vitamin k independent factors are in the normal range. Deficiency of all vitamin k dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin k. Accordingly a clearly prolonged pt international normalized ratio inr 3 5 in the presence of normal fibrinogen concentration and platelet count is highly suggestive of vitamin k deficiency.

A rare inherited form of defective gamma carboxylation resulting in early onset o.