Prevalence of Protein C Deficiency in the Healthy Population

Tait, Robert C.; Walker, Isobel D.; Ph, Reitsma; Islam, S. I. A. M.; McCall, Frances; Poort, S R; Conkie, J.A.; Bertina, R. M.

doi:10.1055/s-0038-1653730

Cited by 304 publications

(132 citation statements)

References 35 publications

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“…Found here in only 1 VV patient. Previous studies have produced conflicting results 2,15,19,20 : one group found a reduction in PC activity in 25% of patients with LDS and CVU; 20 but another found no difference in PC activity in CVU cases vs controls. 15 Yasim et al found no difference in PC activity in patients with VV compared with controls.…”

Section: Resultsmentioning

confidence: 98%

Higher prevalence of thrombophilia in patients with varicose veins and venous ulcers than controls

Darvall

Sam

Adam

et al. 2009

Journal of Vascular Surgery

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Patients with VV, and particularly CVU, have significantly higher prevalences of single and multiple thrombophilias than age- and sex-matched controls without clinical or duplex evidence of lower limb venous disease. These data support the hypothesis that thrombophilia predisposes to the development of superficial and deep lower limb venous reflux, and so VV and CVU, through the increased occurrence of clinical and subclinical thrombosis.

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Section: Resultsmentioning

confidence: 98%

Higher prevalence of thrombophilia in patients with varicose veins and venous ulcers than controls

Darvall

Sam

Adam

et al. 2009

Journal of Vascular Surgery

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“…36 The population frequencies of natural anticoagulant deficiency in Western ethnic populations have been described as 0.2-0.45% for PC deficiency, 0.03-1.3% for PS deficiency, and 0.02-0.25% for AT deficiency. 9,[37][38][39][40][41][42] The differences in the methodological strategy used to screen for and confirm the deficiency (e.g., type/frequency of tests, family study, and cutoffs) could also have affected the figures. In particular, earlier studies were based only on coagulation tests, while recent studies tend to involve molecular genetic tests to confirm the hereditary nature of the deficiency.…”

Section: © F E R R a T A S T O R T I F O U N D A T I O Nmentioning

confidence: 99%

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population

et al. 2013

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© F e r r a t a S t o r t i F o u n d a t i o nIn this regard, we investigated the molecular genetic defects of natural anticoagulant deficiencies (PC, PS, and AT) in a large number of consecutive VTE patients and in the general population in Korea screened by coagulation tests. The results revealed unique frequencies and mutation spectrums of natural anticoagulant deficiencies in the group of VTE patients and in the general population. These frequencies and the mutation spectrums in Korea were not only distinct from those in Caucasian populations but also from those in other Asian countries. Methods Patients and populationThe group of patients consisted of consecutive VTE patients screened for thrombophilia including PC, PS, and AT deficiencies at Samsung Medical Center, Seoul, Korea, from January 2005 to December 2012. For the population group, at least 3,000 individuals visiting the institution for routine check-ups were screened from September 2005 to January 2006 using the same coagulation tests for natural anticoagulant deficiency as those used in the patients. In each group, those suspected of having a natural anticoagulant deficiency underwent molecular genetic tests to confirm the deficiency. In both groups, we excluded those with low levels of multiple (2 or more) natural anticoagulants, especially in association with underlying liver disease or other extrinsic factors. Written informed consent was obtained from the patients in the study, which was approved by the Institutional Review Board of the Samsung Medical Center, Seoul, Korea. Coagulation testsThe thrombophilia profile tests for VTE patients included screening for genetic thrombophilia: PC activity (Stachrom ® Protein C, Diagnostica Stago, Asnieres-Sur-Seine, France), PS free antigen (Liatest ® Free Protein S, Diagnostica Stago), and AT activity (Stachrom ® ATIII, Diagnostica Stago). All coagulation tests were performed on the STA ® coagulation analyzer (Diagnostica Stago). The local reference intervals were determined according to the guidelines from the Clinical and Laboratory Standards Institute (http://www.clsi.org/) as the 2.5-97.5 percentiles (PC activity, PS free antigen,.2% for males and 56.0-132.6% for females; and AT activity, 81.5-119.3%). 10 Tests for PC antigen, PS total antigen and activity, and AT antigen were additionally performed when indicated. Natural anticoagulant deficiency was suspected in VTE patients when the result was below the lower limit of the reference interval (2.5 percentile). Screening for natural anticoagulant deficiency in the population group was performed using the same coagulation tests as those used in the VTE patients. Individuals with levels of PC, PS, or AT below the 1 st percentile were selected for molecular genetic tests. Molecular genetic analysesGenomic DNA was extracted from peripheral blood leukocytes using the Wizard Genomic DNA Purification kit following the standard protocols (Promega, Madison, WI, USA). Molecular genetic diagnosis of natural anticoagulant deficiency was performed by...

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“…The prevalence of heterozygosity for protein C deficiency in a healthy general population has been estimated to be between 1 in 200 and 1 in 500; this was established in two large studies of more than 15,000 blood donors. 293,294 The estimated prevalence varied because molecular confirmation of protein C deficiency was not possible in all patients and also because the investigators corrected for the possibility of missed cases of protein C deficiency. In unselected patients with venous thromboembolism, the frequency of protein C deficiency or protein S deficiency is approximately 8%.…”

Section: O Apl and The Protein C Pathwaymentioning

confidence: 99%

Antiphospholipid Antibodies: Laboratory and Pathogenetic Aspects

Vlachoyiannopoulos

Samarkos

Sikara

et al. 2007

Critical Reviews in Clinical Laboratory Sciences

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Antiphospholipid antibodies (aPL) constitute a heterogeneous group of autoantibodies that share the ability to bind phospholipids (PL) alone, protein-PL complexes, or PL-binding proteins. They have been detected in isolation, in association with autoimmune diseases such as systemic lupus erythematosus (SLE), and during the course of different infections. aPL have been associated with an array of clinical manifestations in virtually every organ, although deep vein and arterial thrombosis as well as pregnancy morbidity are predominant. The co-occurrence of these clinical findings with aPL constitutes the so-called antiphospholipid syndrome (APS). aPL can be detected by immunological methods [e.g., anticardiolipin antibodies (aCL)] or by functional methods that exploit the effect of aPL on blood coagulation [lupus anticoagulant (LA)]. Since aPL are heterogeneous, numerous immunological and coagulation assays have been developed. These assays have not been fully standardized, and, therefore, problems such as high interlaboratory variation are relatively frequent. Recently, recommendations have been published regarding LA and aCL testing. Not all aPL are pathogenic. However, when they are not associated with infections, they have a role in the pathogenesis of APS. Clinical and experimental data have shown that aPL exert their pathogenic activity by interfering with the function of coagulation factors, such as thrombin and factors X, XI and XII, and with the function of anticoagulant proteins of the protein C system. In addition, aPL interaction with platelets and endothelial cells induces a pro-adhesive activated phenotype.

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Prevalence of Protein C Deficiency in the Healthy Population

Cited by 304 publications

References 35 publications

Higher prevalence of thrombophilia in patients with varicose veins and venous ulcers than controls

Higher prevalence of thrombophilia in patients with varicose veins and venous ulcers than controls

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population

Antiphospholipid Antibodies: Laboratory and Pathogenetic Aspects

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