May 2022 QQ: Thrombosis Risk Profile Summary

May 2022 QQ: Thrombosis Risk Profile Summary
Jun 1, 2022 11:09am

We had near-100% agreement on our May 2022 Quick Question, which attracted 45 voters: "What assay should be deleted from the thrombosis risk factor profile?" Here are our selections:

  1. Protein C 0%
  2. Protein S 2% [1]
  3. Antithrombin 2% [1]
  4. Activated protein C resistance 7% [3]
  5. Prothrombin G20210A mutation 4% [2]
  6. Methylenetetrahydrofolate reductase resistance [MTHFR] polymorphism 85% [38]

Thrombosis risk testing has been available to us since von Kaulla first described "antithrombin 3" deficiency in 1972 using the "serum antithrombin" test. It gained momentum when Dahlbach described activated protein C resistance in 1994, and thrombosis risk testing profiles are now ordered routinely, often without patient indications. A typical thrombosis risk factor profile includes proteins C and S, antithrombin, and activated protein C resistance, which may indicate the factor V Leiden mutation. Many include the prothrombin G20210A mutation, though its detection requires a molecular diagnostic assay. We once included the MTHFR G677T polymorphism, which also requires a molecular assay. While the MTHFR polymorphism has been associated with mild hyperhomocysteinemia, the link between the polymorphism and thrombosis. is weak, as indicated in the attached article.

Clarke R, Bennett DA, Parish S, et al. Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. PLoS Medicine 2012; www.plosmedicine.org e1001177

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We had near-100% agreement on our May 2022 Quick Question, which attracted 45 voters: "What assay should be deleted from the thrombosis risk factor profile?" Here are our selections:

  1. Protein C 0%
  2. Protein S 2% [1]
  3. Antithrombin 2% [1]
  4. Activated protein C resistance 7% [3]
  5. Prothrombin G20210A mutation 4% [2]
  6. Methylenetetrahydrofolate reductase resistance [MTHFR] polymorphism 85% [38]

Thrombosis risk testing has been available to us since von Kaulla first described "antithrombin 3" deficiency in 1972 using the "serum antithrombin" test. It gained momentum when Dahlbach described activated protein C resistance in 1994, and thrombosis risk testing profiles are now ordered routinely, often without patient indications. A typical thrombosis risk factor profile includes proteins C and S, antithrombin, and activated protein C resistance, which may indicate the factor V Leiden mutation. Many include the prothrombin G20210A mutation, though its detection requires a molecular diagnostic assay. We once included the MTHFR G677T polymorphism, which also requires a molecular assay. While the MTHFR polymorphism has been associated with mild hyperhomocysteinemia, the link between the polymorphism and thrombosis. is weak, as indicated in the attached article.

Clarke R, Bennett DA, Parish S, et al. Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. PLoS Medicine 2012; www.plosmedicine.org e1001177

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