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

Am J Hematol. 2005 Jan;78(1):21-6. doi: 10.1002/ajh.20233.

Abstract

Over a 36-month period, 46 consecutive Mexican mestizos with a clinical marker associated with a primary hypercoagulable state were prospectively assessed by searching for the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. Of the 46 consecutive patients prospectively accrued in the study, only 12 (26%) were males, the median age being 38 years (range 10-63 years). In only four individuals (8%) could we not record any abnormality. In 5/42 patients with abnormal results (12%), a single abnormality was recorded, whereas in the remaining 37, two to five co-existing abnormalities were identified. We found 22 (48%) patients with the SPS, 11 (24%) with the aPCR phenotype, 5 (11%) with the factor V Leiden mutation, 7 (15%) with the prothrombin gene mutation, 29 (63%) with the MTHFR gene mutation, 11 (24%) with the factor V HR2 haplotype, 11 (24%) with antiphospholipid antibodies, 4 (9%) with PS deficiency, 6 (13%) with PC deficiency, one with the FV Hong Kong mutation, and one with AT-III deficiency. The results are consonant with the idea that most cases of thrombophilia in Mexico are multifactorial.

MeSH terms

  • Adolescent
  • Adult
  • Blood Platelet Disorders / genetics
  • Carbon-Nitrogen Ligases / genetics
  • Child
  • Factor V / genetics
  • Female
  • Humans
  • Indians, North American / genetics*
  • Male
  • Mexico
  • Middle Aged
  • Mutation
  • Phenotype
  • Prospective Studies
  • Prothrombin / genetics
  • Thrombophilia / genetics*
  • White People / genetics*

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin
  • Carbon-Nitrogen Ligases
  • 5,10-methenyltetrahydrofolate synthetase