Detección incidental de niveles de vitamina B12 elevados y su relación con neoplasias / Incidental detection of raised serum levels of vitaminB12 and its association with neoplasms

Antecedentes y objetivo Los niveles elevados de vitaminaB12 se han asociado a enfermedades oncohematológicas. Sin embargo, se desconoce la relevancia de su detección incidental en sujetos sin un diagnóstico previo de cáncer. El objetivo de este estudio es evaluar la relación de la hipercobalaminemia y el diagnóstico de un proceso tumoral y establecer los factores de riesgo. Material y métodos Estudio observacional retrospectivo de una cohorte de pacientes con hipercobalaminemia. Se comparó la incidencia de neoplasias con una cohorte de pacientes con vitaminaB12<1.000pg/ml. Resultados Se seleccionaron 4.800 sujetos con determinaciones de vitaminaB12: 345 (7,1%) presentaban niveles >1.000pg/ml. Se excluyeron 68 (28,4%) por administración exógena, 12 (5%) por datos insuficientes y 15 (3%) por una neoplasia activa, seleccionando 250 pacientes; mediana de seguimiento: 22 (RIQ: 12-39) meses. Se detectó: hepatopatía 59 (23,6%), 44 (18,2%) presentaron cáncer de órgano sólido y 17 (7,1%), hemopatía maligna. El tiempo medio desde la detección de hipercobalaminemia al diagnóstico fue de 10meses. La mediana hasta el diagnóstico fue mayor en el grupo de vitaminaB12 elevada (13 vs 51meses; p<0,001). La hipercobalaminemia (HR_ 11,8; IC95: 2,8-49,6; p=0,001) y el tabaquismo (HR: 4,0; IC95%: 2,15-7,59; p<0,001) resultaron predictores independientes. Conclusiones La detección incidental de niveles séricos de vitaminaB12 >1.000pg/ml es elevada. El diagnóstico de neoplasia órgano sólido y hematológica es frecuente durante el año siguiente de seguimiento, siendo la hipercobalaminemia y el tabaquismo factores predictores de un mayor riesgo de cáncer. (AU)

Background and objective Elevated serum levels of vitaminB12 have been associated with oncohematological diseases. However, the relevance of its incidental detection in subjects without a previous diagnosis of cancer is unknown. The aim of this study was to evaluate the relationship between incidental hypercobalaminemia (vitaminB12 >1000pg/mL) and the diagnosis of a tumor process in patients without a diagnosis and to establish the risk factors. Material and methods Retrospective observational study of a cohort of patients with hypercobalaminemia. The incidence of neoplasms was compared with a cohort of patients with vitaminB12 levels <1000pg/mL. Results Vitamin B12 determinations of 4800 subjects were selected. Of them, 345 (7.1%) had levels >1000pg/ml; 68 (28.4%) were excluded due to exogenous administration, 12 (5%) due to insufficient data, and 15 (3%) due to having an active neoplasia, selecting 250 patients, with a median follow-up of 22 (IQR: 12-39) months. Structural liver disease was detected in 59 (23.6%). 18.2% (44 patients) had solid organ cancer and 17 (7.1%) had malignant hemopathy. The average time from the detection of hypercobalaminemia to the diagnosis of cancer was about 10months. The median until the diagnosis of neoplasia was higher in the high vitaminB12 group (13 vs 51months; P<.001). Hypercobalaminemia (HR: 11.8; 95%CI: 2.8-49.6; P=.001) and smoking (HR: 4.0; 95%CI: 2.15-7.59; P<.001) were independent predictors of neoplasia in the multivariate analysis. Conclusions Incidental detection of serum vitaminB12 levels >1000pg/ml is high in the population. The diagnosis of solid organ and hematological neoplasia is frequent during the following year of follow-up, with hypercobalaminemia and smoking being predictors of a higher risk of cancer. (AU)

Detección incidental de niveles de vitamina B12 elevados y su relación con neoplasias / Incidental detection of raised serum levels of vitaminB12 and its association with neoplasms

Antecedentes y objetivo Los niveles elevados de vitaminaB12 se han asociado a enfermedades oncohematológicas. Sin embargo, se desconoce la relevancia de su detección incidental en sujetos sin un diagnóstico previo de cáncer. El objetivo de este estudio es evaluar la relación de la hipercobalaminemia y el diagnóstico de un proceso tumoral y establecer los factores de riesgo. Material y métodos Estudio observacional retrospectivo de una cohorte de pacientes con hipercobalaminemia. Se comparó la incidencia de neoplasias con una cohorte de pacientes con vitaminaB12<1.000pg/ml. Resultados Se seleccionaron 4.800 sujetos con determinaciones de vitaminaB12: 345 (7,1%) presentaban niveles >1.000pg/ml. Se excluyeron 68 (28,4%) por administración exógena, 12 (5%) por datos insuficientes y 15 (3%) por una neoplasia activa, seleccionando 250 pacientes; mediana de seguimiento: 22 (RIQ: 12-39) meses. Se detectó: hepatopatía 59 (23,6%), 44 (18,2%) presentaron cáncer de órgano sólido y 17 (7,1%), hemopatía maligna. El tiempo medio desde la detección de hipercobalaminemia al diagnóstico fue de 10meses. La mediana hasta el diagnóstico fue mayor en el grupo de vitaminaB12 elevada (13 vs 51meses; p<0,001). La hipercobalaminemia (HR_ 11,8; IC95: 2,8-49,6; p=0,001) y el tabaquismo (HR: 4,0; IC95%: 2,15-7,59; p<0,001) resultaron predictores independientes. Conclusiones La detección incidental de niveles séricos de vitaminaB12 >1.000pg/ml es elevada. El diagnóstico de neoplasia órgano sólido y hematológica es frecuente durante el año siguiente de seguimiento, siendo la hipercobalaminemia y el tabaquismo factores predictores de un mayor riesgo de cáncer. (AU)

Background and objective Elevated serum levels of vitaminB12 have been associated with oncohematological diseases. However, the relevance of its incidental detection in subjects without a previous diagnosis of cancer is unknown. The aim of this study was to evaluate the relationship between incidental hypercobalaminemia (vitaminB12 >1000pg/mL) and the diagnosis of a tumor process in patients without a diagnosis and to establish the risk factors. Material and methods Retrospective observational study of a cohort of patients with hypercobalaminemia. The incidence of neoplasms was compared with a cohort of patients with vitaminB12 levels <1000pg/mL. Results Vitamin B12 determinations of 4800 subjects were selected. Of them, 345 (7.1%) had levels >1000pg/ml; 68 (28.4%) were excluded due to exogenous administration, 12 (5%) due to insufficient data, and 15 (3%) due to having an active neoplasia, selecting 250 patients, with a median follow-up of 22 (IQR: 12-39) months. Structural liver disease was detected in 59 (23.6%). 18.2% (44 patients) had solid organ cancer and 17 (7.1%) had malignant hemopathy. The average time from the detection of hypercobalaminemia to the diagnosis of cancer was about 10months. The median until the diagnosis of neoplasia was higher in the high vitaminB12 group (13 vs 51months; P<.001). Hypercobalaminemia (HR: 11.8; 95%CI: 2.8-49.6; P=.001) and smoking (HR: 4.0; 95%CI: 2.15-7.59; P<.001) were independent predictors of neoplasia in the multivariate analysis. Conclusions Incidental detection of serum vitaminB12 levels >1000pg/ml is high in the population. The diagnosis of solid organ and hematological neoplasia is frequent during the following year of follow-up, with hypercobalaminemia and smoking being predictors of a higher risk of cancer. (AU)

Incidental detection of raised serum levels of vitamin B12 and its association with neoplasms.

BACKGROUND AND OBJECTIVES: Elevated serum levels of vitamin B12 have been associated with oncohematological diseases. However, the relevance of its incidental detection in subjects without a previous diagnosis of cancer is unknown. The aim of this study was to evaluate the relationship between incidental hypercobalaminemia (vitamin B12 > 1000 pg/mL) and the diagnosis of a tumor process in patients without a diagnosis and to establish the risk factors. MATERIAL AND METHODS: Retrospective observational study of a cohort of patients with hypercobalaminemia. The incidence of neoplasms was compared with a cohort of patients with vitamin B12 levels <1000 pg/mL. RESULTS: Vitamin B12 determinations of 4800 subjects were selected. Of them, 345 (7.1%) had levels >1000 pg/mL. 68 (28.4%) were excluded due to exogenous administration, 12 (5%) due to insufficient data and 15 (3%) due to having an active neoplasia, selecting 250 patients, with a median follow-up of 22 (IQR 12-39) months. Structural liver disease was detected in 59 (23.6%). 18.2% (44 patients) had solid organ cancer and 17 (7.1%) had malignant hemopathy. The average time from the detection of hypercobalaminemia to the diagnosis of cancer was about 10 months. The median until the diagnosis of neoplasia was higher in the high vitamin B12 group (13 vs. 51 months p < 0.001). Hypercobalaminemia (HR 11.8; 95% CI 2.8-49.6; p = 0.001) and smoking (HR 4.0; 95% CI, 2.15-7.59; p < 0.001) were independent predictors of neoplasia in the multivariate analysis. CONCLUSIONS: Incidental detection of serum vitamin B12 levels >1000 pg/mL is high in the population. The diagnosis of solid organ and hematological neoplasia is frequent during the following year of follow-up, with hypercobalaminemia and smoking being predictors of a higher risk of cancer.

Fabry's disease: long-term study of a family.

Fabry's disease is the second most prevalent lysosomal storage disorder after Gaucher's disease. It occurs as the result of a deficit in the alpha-galactosidase A enzyme. The gene coding for it is located on the long arm of the X chromosome (Xq22.1). This deficit causes the gradual accumulation of a glycosphingolipid. The main substance accumulated is globotriaosylceramide (Gb3). This accumulation leads to pain and angiokeratomas, and to cardiac, cerebral, and vascular involvement as the disease progresses. The treatment of Fabry's disease has so far only been symptomatic; however, new advances have now made it possible to prescribe alpha-galactosidase replacement therapy, which not only improves symptoms, but also enhances these patients' quality of life and lowers mortality. In this paper we review the status of Fabry's disease and we report the follow-up of a family with Fabry's disease, with some members receiving replacement therapy with alpha-galactosidase A and demonstrating good progress.

[Treatment of malignant pheochromocytoma with 131I MIBG: a long survival]. / Feocromocitoma maligno tratado con MIBG I131:una larga supervivencia.

131I-metaiodobenzylguanidine (131I-MIBG) is a structural analogue of adrenal hormone norepinephrine employed to localise tumours derived of neural crest and in the treatment of malignant pheochromocytomas. Although the number of patients is low, in the revised literature there are objective remissions and reduction of hormonal activity, with symptomatic answers. However, the reduction of size of tumour only has been described in some times and hardly ever in the presence of osseous metastasis. We present one patient diagnoses of malignant pheochromocytoma with osseous metastasis, who was treated with 131I-MIBG. It was administrated a total dose of 1,800 mCu, with an excellent tolerance and short adverse symptoms. There were a partial tumour response and a complete hormonal response, with a survival of 30 years after the diagnoses.

Feocromocitoma maligno tratado con MIBG I131: una larga supervivencia / Treatment of malignant pheochromocytoma with 131I-MIBG: a long survival

La metaiodobenzilguanidina marcada con I131 (MIBG I131) es un analogo estructural de la hormona adrenérgica norepinefrina que se utiliza para la localización de tumores derivados de la cresta neural y para el tratamiento de feocromocitomas malignos. Aunque el número de pacientes tratados es pequeño, en la literatura revisada se dispone de datos acerca de la inducción de remisiones objetivas y de la reducción de la actividad hormonal, consiguiendo respuestas sintomáticas. Sin embargo, la reducción del tamaño tumoral sólo se ha descrito en algunas ocasiones y casi nunca en presencia de metástasis óseas. Presentamos el caso de un paciente diagnosticado de feocromocitoma maligno, con afectación ósea, que recibió tratamiento con MIBG I131.Se administró una dosis total aproximada de 1.800 mCu, con una buena tolerancia y escasos efectos secundarios. Hubo una respuesta tumoral parcial y una respuesta hormonal completa, con una supervivencia de 30 años tras el diagnóstico (AU)

[Fabry's disease associated with rheumatoid arthritis. Multisystemic crossroads]. / Enfermedad de Fabry asociada a artritis reumatoide. Una encrucijada multisistémica.

Fabry's disease is a rare congenic disorder of glycosphingolipid catabolism resulting from deficient activity of the alpha galactosidasa. Is an X-linked disorder and in hemizygous males the activity of this enzyme is very low, resulting in severe manifestations. Fabry disease is confirmed by the lack alfa-galactosidase in serum. In the literature have been reported a few cases of coexistent Fabry's disease and connective disorders, but there is not cases of rheumatoid arthritis coexistent. This report describes a case of a female with Fabry's disease who vas subsequently diagnosed with rheumatoid arthritis. The suspect diagnosis was very important because the two disorders are multisystem and new symptoms could be attributed to Fabry's disease. The accumulation of lipids may results in numerous pathogenic autoantibodies, which could make immunocomplex. This is the potential pathogenic mechanisms explaining the association between Fabry's disease and autoimmune diseases.

Enfermedad de Fabry asociada a artritis reumatoide. Una encrucijada multisistémica / Fabry's disease associated with rheumatoid arthritis. A multisystem crossroad

La enfermedad de Fabry es una alteración congénita poco frecuente, del metabolismo de los glucoesfingolípidos, en la cual existe un déficit de la enzima alfa galactosidasa A. Se trasmite de modo recesivo ligada al X por lo que las manifestaciones clínicas son más severas en varones hemicigóticos. El diagnóstico se lleva a cabo mediante la determinación de los niveles del enzima alfa-galactosidasa. En la literatura se han descrito varios casos de enfermedad de Fabry asociada a enfermedades del tejido conectivo, pero no se ha encontrado ningún caso coexistiendo con artritis reumatoide. Presentamos un caso de una paciente con enfermedad de Fabry que, posteriormente se diagnosticó de artritis reumatoide. El diagnóstico de sospecha fue fundamental ya que el carácter multisistémico de las manifestaciones clínicas de ambas enfermedades hace que sea difícil no atribuir nuevos signos a la enfermedad de Fabry. El acúmulo de lípidos provoca un estímulo antigénico prolongado que es capaz de formar inmunocomplejos. Esta es la hipótesis patogénica por la que creemos que la enfermedad de Fabry se asocia a enfermedades autoinmunes (AU)

Bronquiolitis obliterante con neumonía organizada asociada a vasculitis cutánea

No disponible