Primary Thrombophilia in México XI: Activated Protein C Resistance Phenotypes are Multifactorial

Ma Fernanda Vallejo-Villalobos1,2, Andrés León-Peña1,3,4, Mónica León-González1,2,4

  • 1Laboratorios Clínicos de Puebla, Puebla, Mexico.

Insights

Activated protein C resistance (aPCR) phenotypes are common in Mexican Mestizos with thrombosis. Factor V Leiden mutation and direct oral anticoagulants (DOACs) are significantly associated with abnormal aPCR, impacting thrombophilia diagnosis.

Area of Science:

  • Hematology
  • Thrombosis Research
  • Clinical Diagnostics

Background:

  • Activated protein C resistance (aPCR) phenotypes are observed in approximately 20% of Mexican Mestizos presenting with thrombosis and thrombophilia markers.
  • Prospective study of 96 Mexican Mestizos with a history of thrombosis and primary thrombophilic state markers over 276 months.

Purpose of the Study:

  • To identify thrombophilic conditions in Mexican Mestizos with abnormal aPCR phenotypes.
  • To investigate associations between abnormal aPCR and specific thrombotic risk factors, including medication use.

Main Methods:

  • Prospective evaluation of 96 Mexican Mestizos with thrombosis and thrombophilia markers.
  • Laboratory assessment for abnormal aPCR phenotypes, Factor V Leiden mutation, Factor VIII levels, antiphospholipid antibodies, and lupus anticoagulant.
  • Recording of recent direct oral anticoagulant (DOAC) use.

Main Results:

  • An abnormal aPCR phenotype was identified in 18 individuals (18.75%).
  • Significant associations were found between abnormal aPCR and Factor V Leiden mutation (p=0.0022) and between abnormal aPCR and DOAC use (p=0.006).
  • Antiphospholipid antibodies and lupus anticoagulant showed a strong association (p<0.0001).
  • Direct oral anticoagulants (DOACs) were used by 22% of individuals with abnormal aPCR.

Conclusions:

  • Factor V Leiden mutation and recent DOAC use are significantly associated with abnormal aPCR phenotypes in Mexican Mestizos with thrombosis.
  • Laboratory evaluations for thrombosis etiology should consider recent DOAC use, as it can influence aPCR testing.
  • Findings align with international observations, reinforcing the need for comprehensive thrombophilia workups.

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