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Background: hyperhomocysteinemia has been recently described in patients with inflammatory bowel disease (IBD), that could be related to the increased risk for thrombosis that exists in this disease. The aim of this study was the assessment of hyperhomocysteinemia in patients with IBD and its relation among vitamin B12 and folate levels, and methylenetetrahydrofolate reductase (MTHFR) 677C→ T and 1298A→C mutations. Patients and methods: fifty two consecutive patients with IBD were studied (29 women and 23 men); age: mean (standard deviation 41.7 [11.9] years) and 186 controls with no difference in age and gender. Hyperhomocysteinemia was considered as homocysteine levels higher than mean plus two standard deviations of the control group (≥ 13 μmol/l). Results: patients had an elevated prevalence of hyperhomocysteinemia (17.3 vs. 3.7%; p = 0.002) and lower folate (7.6 [4.1] vs. 8.9 [3.7] ng/ml; p = 0.01) and B12 vitamin levels (499 [287] vs. 603 [231] pg/ml; p = 0.003). Homocysteinemia was higher (14.3 [5.8] vs. 9.1 [3.9] μmol/l; p = 0.006) in 6 patients (11.5%) that had suffered thromboembolism. Frequency of MTHFR 677C→T (13.5 vs. 11.3%; p = 0.66) and 1298A→C (7.8 vs. 7.0%; p = 0.76) mutations was not increased in patients. Odds ratio (OR) for IBD in hyperhomocysteinemic patient was 5.51, 95% confidence interval (CI), 1.81-16.76; p = 0.002). Hyperhomocysteinemia was negatively associated with feminine gender (OR 0.08, 95% CI 0.01-0.49; p = 0.006) and folate levels (OR 0.04, 95%CI: 0.007-0.20; p < 0.001). Conclusions: hyperhomocysteinemia is associated with IBD and low folate levels, and could be involved in development of thromboembolism. MTHFR 677C→T and 1298A→C mutations are not related with the disease. Fundamento: recientemente se ha descrito la existencia de hiperhomocisteinemia en la enfermedad inflamatoria intestinal (EII), que podría estar relacionada con el mayor riesgo de trombosis en esta enfermedad. El objetivo del estudio ha sido evaluar la hiperhomocisteinemia en los pacientes con EII y su relación con las concentraciones de vitamina B12 y folato séricos y con las mutaciones de la metilentetrahidrofolato reductasa (MTHFR) 677C→T y 1298A→C. Pacientes y métodos: se estudiaron consecutivamente 52 pacientes con EII (29 mujeres y 23 varones; edad: media [desviación estándar] 41,7 [11,9] años) y 186 controles con edad y sexo similares. Se consideró hiperhomocisteinemia cuando los valores de homocisteína eran superiores a la media más dos desviaciones estándar del grupo control (≥ 13 mmol/l). Resultados: los pacientes presentaban una mayor prevalencia de hiperhomocisteinemia (17,3 frente a 3,7%; p = 0,002) y unos valores más bajos de folato (7,6 [4,1] frente a 8,9 [3,7] ng/ml; p = 0,01) y de vitamina B12 (499 [287] frente a 603 [231] pg/ml; p = 0,003). En 6 pacientes (11,5%) que habían padecido episodios tromboembólicos la homocisteinemia era más elevada (14,3 [5,8] frente a 9,1 [3,9] µmol/l; p = 0,006). La frecuencia de las mutaciones MTHFR 677C→T (13,5% frente a 11,3%; p = 0,66) y de la 1298A→C (7,8 frente a 7,0%; p=0,76) no fue mayor en los pacientes. La odds ratio (OR) de EII en los pacientes hiperhomocisteinémicos fue 5,51, intervalo de confianza [IC] del 95%: 1,81-16,76; (p = 0,002). La hiperhomocisteinemia se asoció negativamente con el sexo femenino (OR 0,08, IC del 95%, 0,01-0,49; p = 0,006) y con los valores de folato (OR 0,04,IC del 95%: 0,007-0,20; p < 0,001). Conclusiones: la hiperhomocisteinemia se asocia a la EII y a las concentraciones bajas de folato, y puede estar implicada en el desarrollo de tromboembolia. Las mutaciones MTHFR 677C→ T y 1298A→ C no se relacionan con la enfermedad.

Background: hyperhomocysteinemia has been recently described in patients with inflammatory bowel disease (IBD), that could be related to the increased risk for thrombosis that exists in this disease. The aim of this study was the assessment of hyperhomocysteinemia in patients with IBD and its relation among vitamin B12 and folate levels, and methylenetetrahydrofolate reductase (MTHFR) 677C→ T and 1298A→C mutations. Patients and methods: fifty two consecutive patients with IBD were studied (29 women and 23 men); age: mean (standard deviation 41.7 [11.9] years) and 186 controls with no difference in age and gender. Hyperhomocysteinemia was considered as homocysteine levels higher than mean plus two standard deviations of the control group (≥ 13 μmol/l). Results: patients had an elevated prevalence of hyperhomocysteinemia (17.3 vs. 3.7%; p = 0.002) and lower folate (7.6 [4.1] vs. 8.9 [3.7] ng/ml; p = 0.01) and B12 vitamin levels (499 [287] vs. 603 [231] pg/ml; p = 0.003). Homocysteinemia was higher (14.3 [5.8] vs. 9.1 [3.9] μmol/l; p = 0.006) in 6 patients (11.5%) that had suffered thromboembolism. Frequency of MTHFR 677C→T (13.5 vs. 11.3%; p = 0.66) and 1298A→C (7.8 vs. 7.0%; p = 0.76) mutations was not increased in patients. Odds ratio (OR) for IBD in hyperhomocysteinemic patient was 5.51, 95% confidence interval (CI), 1.81-16.76; p = 0.002). Hyperhomocysteinemia was negatively associated with feminine gender (OR 0.08, 95% CI 0.01-0.49; p = 0.006) and folate levels (OR 0.04, 95%CI: 0.007-0.20; p < 0.001). Conclusions: hyperhomocysteinemia is associated with IBD and low folate levels, and could be involved in development of thromboembolism. MTHFR 677C→T and 1298A→C mutations are not related with the disease.