Vitamin K Dependent Coagulation Factors Deficiency
Combined deficiency of vitamin k dependent clotting factors. The more common clinical presentation of combined deficient activity of clotting factors ii fii fvii fix and fx and.
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Deficiency of vitamin k leads to decreased activity of vitamin k dependent coagulation factors ii vii ix x.
Vitamin k dependent coagulation factors deficiency. Combined deficiency of vitamin k dependent clotting factors vkcfd arises only rarely as a congenital condition. Deficiency of all vitamin k dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin k. Many types of food contain vitamin k and it is rare to have a deficiency.
Vitamin k independent factors are in the normal range. To date only eleven families have been reported in the literature. 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.
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. Congenital vkcfd is inherited as one of two variants. 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.
127 129 these rare autosomal recessive disorders have an estimated incidence of 1. Vitamin k is an essential cofactor in the activation of certain proteins within your body 1. 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.
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. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin k. The vitamin k dependent coagulation factors are factors ii vii ix x proteins c and s.
Without the activation step certain biochemical reactions cannot be completed. Citrate plasma drawn antemortem is the only acceptable specimen type for these assays. Familial multiple coagulation factor deficiency is rare.
Hereditary combined deficiency of the vitamin k dependent coagulation factors is a rare bleeding disorder. Familial multiple coagulation factor deficiency is rare. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin k.
The phenotype varies considerably with respect to bleeding tendency response to vitamin k substitution and the presence of skeletal abnormalities suggesting genetic heterogeneity. 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.
Vitamin k plays a role in your blood clot formation and bone health. Both are rare autosomal recessive bleeding disorders.
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