protein C deficiency


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protein C deficiency

A condition characterized by a deficiency of vitamin K dependent plasma protein C and protein S, both natural anticoagulants; PCD is either AD of variable penetration, or acquired, and due to DIC, warfarin therapy, hepatic disease and postoperatively
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Neonatal Purpura Fulminans was assumed as an inherited disorder due to the presence of similar skin lesions in three siblings when it was first described in 1962.5 Relationship of PF and protein C deficiency was first described in 1983, and was effectively treated with protein C replacement therapy.6 Inherited causes of PF have been associated with homozygous deficiency of protein C or S, other than complex heterozygous and/or may be as co-inheritance with other congenital thrombophilia.7
Protein C deficiency occurs in one of every 200-500 people [1], and patients with protein C deficiency have a 7-fold higher risk of developing thrombosis than healthy people because of poor fibrinolytic activity.
In a cohort study containing three cohorts of families with a hereditary deficiencies of protein C, protein S, and antithrombin III, compared with nondeficient family members, subjects with protein S or protein C deficiency but not antithrombin III deficiency had a higher risk for arterial thromboembolism before 55 years of age that was independent of their history of prior venous thromboembolism [4].
Protein C deficiency (PCD) can be classified into type I, where there is a decrease in protein C concentration, and type II, where there is a decreased activity with normal level of protein C.
Prevalence of hereditary thrombophilia (HT) in general population varies from 0.2%-0.4% for protein C deficiency 0.2% for protein S deficiency 0.02% for AT III deficiency and 4-5% for FVL.45 Thrombophilia screening for genetic risk factors is advised in patients with thromboembolism particularly if they are young present with recurrent episodes thrombosis at unusual sites or have a positive family history for the disease.67 Thrombophilia screening helps decision making about the duration of anticoagulant therapy after first episode for instance a longer or indefinite
Protein C deficiency occurred in 46.7% (7of 15) patients (table-3), while Protein S deficiency in 86.7 %(13 of 15) patients (table-4).
Suggested Thrombophilia Work-Up Inherited Thrombophilia test Cut-off for diagnosis thrombophilia Factor V Leiden FVL polymerase chain Positive reaction or second-generation activated protein C resistance assay Prothrombin G20210A PGM polymerase chain Positive mutation (PGM) reaction Protein C deficiency Protein C functional <50% assay Antithrombin Antithrombin activity <60% deficiency (amidolytic [chromogenic]) assay Protein S deficiency Protein S free antigen <55% (nonpregnant) [less than or equal to] 29% (first/second trimesters) [less than or equal to] 24% (third trimester) Source: Dr.
Isolated protein S deficiency was seen in 9 patients, and combined protein S plus protein C deficiency occurred in 3 subjects.
These protein deficiencies/abnormalities are genetic and include entities such as antithrombin deficiency, protein C deficiency, protein S deficiency, Factor V Leiden mutation, prothrombin 20210, and dysfibrinogenemia, among others.
Inherited protein C deficiency is a strong risk factor for venous thrombosis (18), but whether acquired deficiency is also a risk factor is unknown.
Whereas the incidence of asymptomatic heterozygous protein C deficiency in the general population is approximately 1 in 200, the true incidence of protien S deficiency is currently unknown.