protein C deficiency

These infants often have protein C deficiency as well.

This disease has similar symptoms to protein C deficiency.

The prevalence of protein C deficiency has been estimated to about 0.2% to 0.5% of the general population.

Homozygous protein C deficiency and the consequent serious health effects were described in 1984 by several scientists.

Liver transplant may be considered curative for homozygous protein C deficiency.

Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease.

The majority of people with protein C deficiency lack only one of the functioning genes, and are therefore heterozygous.

Patients with Protein C deficiency are at an increased risk of developing skin necrosis while on warfarin.

Studies have demonstrated an increased risk of recurrent venous thromboembolic events in patients with protein C deficiency.

In 1982, a family study by Griffin et al. first associated protein C deficiency with symptoms of venous thrombosis.

There are two main types of protein C mutations that lead to protein C deficiency:

Protein S deficiency can be affected in the same way as protein C deficiency is affected.

A genetic protein C deficiency, in its mild form associated with simple heterozygosity, causes a significantly increased risk of venous thrombosis in adults.

Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8-10), whereas no association with arterial thrombotic disease has been found.

Warfarin necrosis is an acquired protein C deficiency due to treatment with warfarin, which is a vitamin K antagonist and an anticoagulant itself.

The main ones are antithrombin III deficiency, protein C deficiency and protein S deficiency.

Protein C deficiency may cause purpura fulminans, a severe clotting disorder in the newborn that leads to both tissue death and bleeding into the skin and other organs.

Protein C deficiency followed in 1981, when described by researchers from the Scripps Research Institute and the U.S. Centers of Disease Control.

Since the clot-promoting effects of coumarins are transitory, patients with protein C deficiency or previous warfarin necrosis can still be restarted on these drugs if appropriate measures are taken.

Before 1999, only sixteen cases of homozygous protein C deficiency had been described (two abnormal copies of the gene, leading to absence of functioning protein C in the bloodstream).

Genetic thrombophilia (factor V Leiden, prothrombin mutation G20210A, protein C deficiency, protein S deficiency, antithrombin deficiency, hyperhomocysteinemia and plasminogen/fibrinolysis disorders)

In these situations, warfarin may be restarted at a low dosage to ensure that the protein C deficiency does not present before the vitamin K coagulation factors II, IX and X are suppressed.

Examples of genetic tendencies include Protein C deficiency, Protein S deficiency, the Factor V Leiden mutation, Hereditary anti-thrombin deficiency and Prothrombin Mutation G20210A.

Florman SS, Fishbein TM, Schiano T, Letizia A, Fennelly E, DeSancho M. Multivisceral transplantation for portal hypertension and diffuse mesenteric thrombosis caused by protein C deficiency.

About 60% of people who are deficient in antithrombin will have experienced thrombosis at least once by age 60, as will about 50% of people with protein C deficiency and about a third of those with protein S deficiency.