Primary thrombophilia in Mexico: A prospective study

Ruíz‐Argüelles, Guillermo J.; González‐Estrada, Sonia; Garcés‐Eisele, Javier; Ruı́z-Argüelles, Alejandro

doi:10.1002/(sici)1096-8652(199901)60:1<1::aid-ajh1>3.0.co;2-q

Cited by 17 publications

(29 citation statements)

References 25 publications

(17 reference statements)

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“…In only four individuals (8%) could we not record any abnormality. The results of these studies in normal individuals, previously published [2][3][4]24], are included in Table I for comparison purposes. In five (12%) of the 42 patients with abnormal results, a single abnormality was recorded, whereas in the remaining 88%, two to five co-existing abnormalities were identified.…”

Section: Resultsmentioning

confidence: 99%

“…Hetero-or homozygosity for the C677T variant of the MTHFR gene have and have not been reported to be risk factors for venous thrombosis [1][2][3][4]21], and a consensus seems to be emerging that the MTHFR C677T variant may not be a significant risk factor for venous thrombosis, per se, but may be when it is associated with other thrombophilic conditions [1-4,21]; we have confirmed previous studies showing that MTHFR gene mutations are very frequent in Mexican mestizos [1][2][3][4]. We have also shown previously that the SPS is a frequent finding in Mexican mestizo thrombophilia patients; we found it in 48% of the thrombophilic individuals, a figure similar to those previously found in Mexico [4,20,21].…”

Section: Discussionmentioning

confidence: 99%

“…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, and IgG and IgM isotypes of antiphospholipid antibodies were assessed as previously described [2].…”

Section: Methodsmentioning

confidence: 99%

“…There is clinical and experimental evidence that changes in the hemostasis can lead to a hypercoagulable or thrombogenic state in the circulation that can foster thrombus formation [1][2][3][4]. In recent years, we have been analyzing changes in the hemostatic system of Mexican mestizos, which can result in thrombophilia, and we have found different anomalies in several natural antithrombotic mechanisms [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

“…In recent years, we have been analyzing changes in the hemostatic system of Mexican mestizos, which can result in thrombophilia, and we have found different anomalies in several natural antithrombotic mechanisms [1][2][3][4]. In an effort to further clarify the causes of thrombophilia in Mexican mestizos, we have prospectively assessed several thrombophilic conditions in a group of 46 consecutive Mexican mestizos.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2004

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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 CfiT 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. Am.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2004

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Primary thrombophilia in Mexico. II. Factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos

et al. 2000

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We have shown that in Mexican mestizo patients with clinical features of primary thrombophilia, 39% have activated protein C resistance phenotype, 5% protein C deficiency, and 2% protein S deficiency. In the present study, in a group of 37 thrombophilic Mexicans and 50 normal controls, we assessed the factor V G1691A (Leiden), the prothrombin G20210A, and the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphisms. Four patients were found to be heterozygous for factor V Leiden, 5 heterozygous for the prothrombin 20210, 16 heterozygous, and 6 homozygous for the MTHFR 677. There were four individuals with co-segregation of alleles: two heterozygotes for the factor V Leiden/prothrombin 20210, one heterozygote for prothrombin 20210/MTHFR 677, and one heterozygote for prothrombin 20210/homozygote for MTHFR 677. For factor V Leiden, prothrombin 20210, and MTHFR 677 mutations, the allele frequencies were respectively 1% (±0.2%, ␣ = 0.05), <1% and 51% (±5%, ␣ = 0.05), with calculated relative risks for thrombosis of 5.94 (P = 0.08), >7.66 (P < 0.05), and 0.44 (P NS), respectively. In Mexican mestizo thrombophilic patients, the low prevalence of the factor V Leiden mutation (10.8%) and the high prevalence of the prothrombin 20210 mutation (13.5%) contrast with those identified in Caucasian thrombophilic patients (21% and 6%, respectively; P < 0.01). On the other hand, the high prevalence of the MTHFR 677 mutation gene both in normal controls (78%) and thrombophilic patients (61%) does not support a role of this mutation in the thrombogenesis of Mexican mestizo patients. Am. J. Hematol. 66:28-31, 2001.

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Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

et al. 2006

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The development of venous thromboembolism is influenced by a variety of genetic and environmental risk factors. A few studies have ascertained whether thrombophilic defects are risk factors for venous thromboembolism in Latin American populations with a variable degree of admixture, such as the Colombian population. To address this issue, we conducted a case-control study involving 100 consecutive patients with deep vein thrombosis and 114 healthy controls from the Hospital Universitario San Vicente de Paú l, Medellín, Colombia. Activated protein C resistance (APC resistance) was detected in 25/99 patients vs. 6/114 controls (OR 5 6.08, 95% CI 5 2.23-17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR 5 12.56, 95% CI 5 1.61-267). APC resistance was associated with the factor V Leiden mutation in only 10/25 patients. The prothrombin G20210A mutation was found in 4/100 patients, but none of the controls (P < 0.05). There was no significant difference in the proportion of homozygous carriers of methylenetetrahydrofolate reductase C677T variant among patients and controls. In conclusion, in our studied population, factor V Leiden, APC resistance, and prothrombin G20210A were associated with an increased risk of deep vein thrombosis. However, the frequencies of these thrombophilic defects and of APC resistance associated with factor V Leiden was lower than the corresponding frequencies previously reported for Caucasian populations. Further study is required to assess the influence of ethnicity on thrombophilia. Am. J. Hematol. 81:933-937, 2006. V V C 2006 Wiley-Liss, Inc.

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Primary thrombophilia in Mexico: A prospective study

Cited by 17 publications

References 25 publications

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

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

Primary thrombophilia in Mexico. II. Factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

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