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Advances in laboratory testing for thrombophilia.

Nicholas V Johnson1, Bernard Khor, Elizabeth M Van Cott

  • 1Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Massachusetts 02114, USA.

American Journal of Hematology
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PubMed
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New assays for hereditary thrombophilia offer advantages but require careful consideration of potential interferences. Understanding these interferences is crucial for accurate diagnosis of thrombophilia, including protein C, protein S, and antithrombin deficiencies.

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Area of Science:

  • Clinical Chemistry
  • Hematology
  • Molecular Diagnostics

Background:

  • Hereditary thrombophilia testing traditionally involves assays for activated protein C resistance (APC-R), factor V Leiden, protein C, protein S, antithrombin, and prothrombin G20210A.
  • Recent years have seen the introduction of novel assay options for these conditions, each presenting unique benefits and drawbacks.

Purpose of the Study:

  • To review and discuss the various available diagnostic assays for hereditary thrombophilia.
  • To highlight potential interferences that can affect assay accuracy and lead to misdiagnosis.
  • To emphasize the importance of excluding acquired deficiencies before diagnosing hereditary conditions.

Main Methods:

  • Discussion of current and emerging laboratory methods for thrombophilia testing.
  • Analysis of potential interfering factors, including anticoagulants (heparin, warfarin, DOACs), lupus anticoagulants, and genetic variations.
  • Review of causes for acquired deficiencies of key coagulation factors.

Main Results:

  • Various assay methodologies exist for hereditary thrombophilia, each with specific performance characteristics.
  • Numerous factors, including medications and endogenous substances, can interfere with assay results.
  • Acquired deficiencies must be ruled out to ensure accurate diagnosis of hereditary thrombophilia.

Conclusions:

  • The selection of appropriate thrombophilia assays requires careful consideration of their advantages, disadvantages, and potential interferences.
  • Accurate diagnosis relies on understanding and mitigating factors that can compromise test results.
  • Distinguishing between hereditary and acquired deficiencies is critical for appropriate patient management.