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Published on: September 9, 2012
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.
Abstract:
Activated protein C resistance (aPCR) phenotypes represent around 20% of the laboratory findings in Mexican Mestizos having suffered thrombosis and displaying clinical markers of thrombophilia. In a single institution for a 276-month period, 96 Mexican mestizos with a history of thrombosis and clinical markers of a primary thrombophilic state were prospectively studied to identify a thrombophilic condition. An abnormal aPCR phenotype was identified in 18 individuals. Evaluation of those with an abnormal aPCR phenotype, identified that 44% had factor V Leiden mutation, 22% increased levels of factor VIII, 16% anti-phospholipid antibodies and 6% a lupus anticoagulant. In the remaining 22%, the use of direct oral anticoagulants (DOACs) in the past period of 12-24 h was recorded. We found significant associations between abnormal aPCR phenotype and the factor V Leiden mutation (p = 0022), between abnormal aPCR phenotype and the use of DOACs (p = 0.006) and between antiphospholipid antibodies and lupus anticoagulant (p < 0.0001). These data are consonant with those observed in other populations and further identify that consideration be given to identifying whether individuals are being treated with the novel DOACs when conducting laboratory studies oriented to identify the etiology of thrombosis.
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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