Primary thrombophilia in Mexico. V. A comprehensive prospective study indicates that most cases are multifactorial

Guillermo J Ruiz-Argüelles1, Briceida López-Martínez, Patricia Valdés-Tapia

  • 1Centro de Hematología y Medicina Interna de Puebla, Puebla, Mexico. gruiz1@clinicaruiz.com

Insights

Most thrombophilia cases in Mexico are multifactorial, with multiple co-existing abnormalities found in 37 out of 46 patients. These included sticky platelet syndrome (SPS) and MTHFR gene mutations, indicating complex genetic and acquired factors.

Area of Science:

  • Hematology
  • Genetics
  • Thrombosis Research

Background:

  • Hypercoagulable states increase the risk of thrombosis.
  • Identifying the underlying causes of thrombophilia is crucial for patient management.
  • Previous studies suggest multifactorial causes for thrombophilia in diverse populations.

Purpose of the Study:

  • To prospectively investigate the prevalence and spectrum of thrombophilia abnormalities in Mexican mestizos.
  • To determine the frequency of single versus multiple co-existing thrombotic risk factors.
  • To assess the contribution of genetic and acquired factors to thrombophilia in this population.

Main Methods:

  • Prospective assessment of 46 Mexican mestizo patients with a clinical marker for hypercoagulable state.
  • Screening for sticky platelet syndrome (SPS), activated protein C resistance (aPCR), antiphospholipid antibodies, and deficiencies in proteins C, S, and antithrombin III.
  • Genetic analysis for Factor V Leiden, prothrombin gene G20210A polymorphism, and MTHFR C677T mutation.

Main Results:

  • Only 8% of patients had no detectable abnormality.
  • Multiple co-existing abnormalities (2-5) were identified in 37 patients (80%).
  • Common findings included MTHFR gene mutation (63%), SPS (48%), and antiphospholipid antibodies (24%).

Conclusions:

  • Thrombophilia in Mexican mestizos is frequently multifactorial, involving several co-existing genetic and acquired risk factors.
  • The high prevalence of MTHFR mutations and SPS suggests their significant role in this population.
  • Further research is warranted to elucidate the specific contributions of these factors to thrombotic events.

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