Primary Thrombophilia in Mexico: A Single Tertiary Referral Hospital Experience

Background: Thrombophilia is a complex hypercoagulable state that predisposes to thrombosis. Several thrombophilia reports have been conducted in Mexicans with lack of statistical significance. The objective of this study was to describe the prevalence of primary thrombophilia in a tertiary referral hospital in Mexico.

Material and methods: Retrospective study of patients referred for primary thrombophilia between January 2011 and May 2015.. Thrombophilia study included: MTHFR C677T, anti-phopholipid antibodies, protein C, protein S, antithrombin, factor VIII, factor V Leiden, prothrombin mutation G20210A, APCR, JAK2 V617F, homocysteine. We used descriptive statistics according to the distribution of the variables. We used measures of central tendency and dispersion: average, median. All analyses were performed using the SPSS for Windows 20.0^®

Results: We identified 224 patients referred for thrombophilia testing in a 4 year period. At the time of statistical analysis 129 patients were excluded for lacking data.Ninety five patients were included.Median age at onset was 36 years. (Table 1) Nine of 60 (15%) female patients reported previous use of contraceptives and 13/60 (21.6%) reported previous obstetric morbidity. (Table 2). We identified at least one anomaly related with thrombophilia in 90/95 patients (94.7%). Eighty patients (84.1%) presented the MTHFR C677T polymorphism; heterozygous 51/95 (53.6%) presenting with hyperhomocysteinemia 18/51 (35.2%) and homozygous 29/95 (30.5%) presenting with hyperhomocysteinemia 10/29 (34.4%).Factor V Leiden was found in 5/95 (5.2%) heterozygous. It co-occurred with APCR in 3/5 cases (60%).In 44 patients we found an isolated anomaly associated with thrombophilia (46.3%). In 51/95 (53.6%) we identified co-occurring anomalies associated with thrombophilia. (Table 3). The median of co-occurring anomalies was 2 (2-4).

Conclusions: The MTHFR C677T polymorphism has a very high prevalence in Mexicans compared to the low prevalence of anticoagulant protein deficiency and factor V Leiden mutation.