Vitamin K Dependent Coagulation Factors Deficiency

Vitamin k plays a role in your blood clot formation and bone health.

Vitamin k dependent coagulation factors deficiency. To date only eleven families have been reported in the literature. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin k. Hereditary combined deficiency of the vitamin k dependent coagulation factors is a rare bleeding disorder. Citrate plasma drawn antemortem is the only acceptable specimen type for these assays.

127 129 these rare autosomal recessive disorders have an estimated incidence of 1. Without the activation step certain biochemical reactions cannot be completed. Familial multiple coagulation factor deficiency is rare. The more common clinical presentation of combined deficient activity of clotting factors ii fii fvii fix and fx and.

Combined deficiency of the vitamin k dependent factors may result from missense mutations in the genes for vitamin k reductase vkorc 1 or gamma glutamyl carboxylase. Both are rare autosomal recessive bleeding disorders. Deficiency of all vitamin k dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin k. Vitamin k independent factors are in the normal range.

Coagulation screening tests and specific assay of the vitamin k dependent coagulation factors are direct measures of the cause of bleeding in vitamin k deficiency states. Deficiency of vitamin k leads to decreased activity of vitamin k dependent coagulation factors ii vii ix x. The phenotype varies considerably with respect to bleeding tendency response to vitamin k substitution and the presence of skeletal abnormalities suggesting genetic heterogeneity. Congenital vkcfd is inherited as one of two variants.

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. In order to continue the chain reaction of the coagulation cascade these four factors need to be activated in a chemical reaction that involves vitamin k. Combined deficiency of vitamin k dependent clotting factors vkcfd arises only rarely as a congenital condition. Vitamin k is an essential cofactor in the activation of certain proteins within your body 1.

Vitamin k dependent clotting factors deficiency vkcfd is a rare autosomal recessive disorder described in the literature as case reports in only 21 kindreds worldwide. 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. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin k. Many types of food contain vitamin k and it is rare to have a deficiency.

The vitamin k dependent coagulation factors are factors ii vii ix x proteins c and s.