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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
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.
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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