The HLA-B*51 allele is strongly associated with Behçet Disease in an Argentinean population / El alelo HLA-B*51 se asoció fuertemente a la Enfermedad de Behçet en la población argentina

OBJECTIVE: To assess the association between the HLA-B*51 allele and Behçet Disease (BD) in Argentinean patients. METHODS: We enrolled 34 consecutive Argentinean patients with definitive diagnosis of BD between October 2016 and March 2017. None of the patients had the HLA-B*51 allele determined at study entry. Unrelated controls (n=240) were randomly obtained from the national cadaveric donor database. Demographic and clinical features of the patients were recorded by attending physicians through a questionnaire. RESULTS: Mean age of cases was 42 years old. Nineteen (55.8%) were male, and the mean age at diagnosis was 35 years old; twenty (58.8%) were Mestizos, 8 (23.5%) were Caucasian, and 6 (17.6%) were Amerindians. Thirteen (38.2%) of 34 cases were HLA-B*51 allele positive; 11 were heterozygous and 2 homozygous for the allele. Thirty-four (14.2%) of 240 controls were positive for the HLA-B*51 allele. The association between BD and HLA-B*51 allele was greater than that of control group (OR=3.75; p = 0.0012). CONCLUSIONS: The HLA-B*51 allele is strongly associated with BD in Argentinean patients. Our finding is consistent with previous studies indicating that the HLA-B*51 allele is an important susceptibility gene in BD regardless the geographical region and ethnicity

OBJETIVO: Evaluar la asociación entre el alelo HLA-B*51 y la enfermedad de Behçet (EB) en pacientes argentinos. MÉTODOS: Incluimos en forma consecutiva 34 pacientes argentinos con diagnóstico definitivo de EB entre los meses de octubre de 2016 y marzo de 2017. Ninguno de los pacientes tenía el alelo HLA-B*51 determinado al inicio del estudio. Los controles no relacionados (n=240) se obtuvieron al azar de la base nacional de datos de donantes cadavéricos. Las características demográficas y clínicas de los pacientes fueron registradas por los médicos asistentes a través de un cuestionario. RESULTADOS: La edad promedio de los casos fue de 42 años. Diecinueve (55,8%) fueron varones, y la edad promedio en el momento del diagnóstico fue de 35 años; 20 (58,8%) fueron mestizos, 8 (23,5%) caucásicos y 6 (17,6%) amerindios. Trece (38,2%) de los 34 casos fueron positivos para el alelo HLA-B*51; 11 de ellos fueron heterocigotas y 2 homocigotas para dicho alelo. Treinta y cuatro (14,2%) de los 240 controles fueron positivos para el alelo HLA-B*51. La asociación entre la EB y el alelo HLA-B*51 fue mayor que en el grupo control (OR=3,75; p = 0,0012). CONCLUSIONES: El alelo HLA-B*51 está fuertemente asociado con la EB en pacientes argentinos. Nuestro hallazgo es consistente con estudios previos que indican que el alelo HLA-B*51 es un gen de susceptibilidad importante en la EB independientemente de la región geográfica y la etnia

The HLA-B*51 Allele is strongly associated with Behçet Disease in an Argentinean population.

OBJECTIVE: To assess the association between the HLA-B*51 allele and Behçet Disease (BD) in Argentinean patients. METHODS: We enrolled 34 consecutive Argentinean patients with definitive diagnosis of BD between October 2016 and March 2017. None of the patients had the HLA-B*51 allele determined at study entry. Unrelated controls (n=240) were randomly obtained from the national cadaveric donor database. Demographic and clinical features of the patients were recorded by attending physicians through a questionnaire. RESULTS: Mean age of cases was 42 years old. Nineteen (55.8%) were male, and the mean age at diagnosis was 35 years old; twenty (58.8%) were Mestizos, 8 (23.5%) were Caucasian, and 6 (17.6%) were Amerindians. Thirteen (38.2%) of 34 cases were HLA-B*51 allele positive; 11 were heterozygous and 2 homozygous for the allele. Thirty-four (14.2%) of 240 controls were positive for the HLA-B*51 allele. The association between BD and HLA-B*51 allele was greater than that of control group (OR=3.75; p=0.0012). CONCLUSIONS: The HLA-B*51 allele is strongly associated with BD in Argentinean patients. Our finding is consistent with previous studies indicating that the HLA-B*51 allele is an important susceptibility gene in BD regardless the geographical region and ethnicity.

Microscopic polyangiitis associated with pulmonary fibrosis.

Microscopic polyangiitis (MPA) is a systemic necrotizing vasculitis characterised by inflammation of the small blood vessels, the absence of granulommas on histopathological specimens, with few or no immune deposits and the presence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs). The classic pulmonary manifestation is diffuse alveolar haemorrhage (DAH), but its association with pulmonary fibrosis (PF) has been increasingly reported and may be the first manifestation of MPA. Our aim was to evaluate MPA patients with PF and compare their characteristics and evolution to those of MPA patients without PF. We conducted a retrospective review of MPA patients followed in our hospital over a 15-year period. They were divided into two subgroups, with PF (MPA-PF) and without PF (MPA-non PF), and their clinical and functional features were compared. Nine of the 28 patients were classified as MPA-PF (32%). This subgroup showed significantly more respiratory symptoms and higher mortality than MPA-non PF subgroup. The most frequent chest computed tomographic pattern of PF was usual interstitial pneumonia. PF preceded other manifestations of vasculitis in five patients and occurred simultaneously in the remaining four. During the follow-up period, four deaths were reported in the MPA-PF subgroup. No deaths were registered in the MPA-non PF subgroup. We found a high prevalence of MPA-PF patients (32%), most of whom had a poor outcome and PF was often the first manifestation of the disease.

Nefritis lúpica. Remisiones y recaídas. Seguimiento a largo plazo de 84 pacientes / Lupus nephritis. Remissions and relapses. Long-term follow up of 84 patients

Introducción: La nefritis es la más frecuente de las manifestaciones graves del LES. La respuesta de las formas proliferativas a la inmunosupresión no es uniforme y son frecuentes las exacerbaciones durante o después de finalizado el tratamiento. Métodos: Analizamos retrospectivamente la evolución de una cohorte de 84 pacientes con nefritis lúpica proliferativa con tratamiento inmunosupresor, en un seguimiento prolongado de hasta 203 meses. Se tomaron como basales: Sexo, edad, latencia entre diagnóstico de LES e inicio de nefritis, complemento sérico, creatinina plasmática y proteinuria. Evaluamos: respuesta inicial al tratamiento, aparición de recaída o recidiva y resultado al final del periodo de observación. Resultados: Se produjo remisión inicial en el 73% de los casos, aunque al final del seguimiento, se encontraban en remisión sólo el 54% de los pacientes. 45 pacientes tuvieron un episodio de nefritis, 32 pacientes dos y 7 pacientes tres. La mayoría de las remisiones se produjeron durante la fase de mantenimiento. La remisión completa tuvo mejor evolución que la remisión parcial. La creatininemia y proteinuria elevadas al inicio fueron marcadores de mal pronóstico. La azatioprina resultó más efectiva que la ciclofosfamida como terapia de mantenimiento, aunque presentó una frecuencia elevada de recaídas. El micofenolato no resultó mejor que la ciclofosfamida/ azatioprina en el tratamiento de las recaídas o recidivas. Conclusiones: Nuestros resultados son Asimilares a los de la literatura. El seguimiento prolongado permite evaluar el resultado a largo plazo del cuadro inicial, los posibles brotes posteriores, la efectividad del tratamiento y la evolución tras su interrupción.

Background: Nephritis is the most common of all serious manifestations of SLE. The proliferative forms require immunosuppressive treatment, but responses are not consistent and exacerbations are frequent during or after the treatment has been completed. Methods: We retrospectively analyzed the evolution of a cohort of 84 patients with proliferative lupus nephritis with immunosuppressive treatment, in a long-term (up to 203 months) follow up. Were taken as basal: sex, age, latency between onset and diagnosis of SLE nephritis, serum complement, plasmatic creatinine and proteinuria. We evaluated: initial response to therapy, occurrence of relapse or recurrence and score at the end of the observation period. Results: Remission of initial nephritis was seen in 73% of the cases, although at the end of monitoring only 54% of patients were in remission. 45 patients had one episode of nephritis, 32 patients had two, and 7 patients had three. Most of the remissions took place during the maintenance period. Complete remission had better evolution than partial remission. High serum creatinine levels and proteinuria at baseline were indicators of bad prognosis. Oral Azathioprine was more effective than quarterly IV Cylophosphamide as maintenance therapy, despite of a high incidence of relapses. Mycophenolate was not more effective than Cyclophosphamide/ azathioprine for the treatment of relapses or recurrences. Conclusions: Our results are similar to the literature. Extended follow up enables the evaluation of the long term result of the initial symptoms, any possible future outbreaks, the effectiveness of the treatment and its evolution after its interruption.

[Pulmonary fibrosis associated with anti-neutrophil cytoplasmic antibody positive vasculitis]. / Fibrosis pulmonar asociada a vasculitis con anticuerpos anticitoplasmáticos positivos.

The most frequently observed pulmonary complications of vasculitis (AAV) with anti-neutrophil cytoplasmic positive antibodies (ANCA) are alveolar hemorrhage, granulomas and airway stenosis. In recent years, some reports have been published that show the association of vasculitis with pulmonary fibrosis (PF), suggesting that it may be another complication of AAV. We report and describe here two cases with such association, and their clinical, tomographic and immunological characteristics. Given that in the association between PF and AAV, as reported in the last years, PF could be the first manifestation of AAV, the search for ANCA in patients with PF may be necessary, as a cause of it and for the possible subsequent development of vasculitis.

Fibrosis pulmonar asociada a vasculitis con anticuerpos anticitoplasmáticos positivos / Pulmonary fibrosis associated with anti-neutrophil cytoplasmic antibody-positive vasculitis

Las complicaciones pulmonares más conocidas de las vasculitis con anticuerpos anticitoplasmáticos de los neutrófilos (ANCA) positivos (VAA), son la hemorragia alveolar, los granulomas y la estenosis de la vía aérea. En los últimos años han aparecido algunos informes aislados que muestran la asociación con fibrosis pulmonar (FP), sugiriendo que ésta sería otra complicación de las VAA. En este trabajo informamos dos casos con dicha asociación describiendo sus características clínicas, tomográficas e inmunológicas. Dado que en la asociación de FP y VAA notificada en los últimos años, la FP puede ser su primera manifestación, podría ser necesaria la búsqueda de ANCA en pacientes con FP, como causa de la misma y por el posible desarrollo posterior de vasculitis.

The most frequently observed pulmonary complications of vasculitis (AAV) with anti-neutrophil cytoplasmic positive antibodies (ANCA) are alveolar hemorrhage, granulomas and airway stenosis. In recent years, some reports have been published that show the association of vasculitis with pulmonary fibrosis (PF), suggesting that it may be another complication of AAV. We report and describe here two cases with such association, and their clinical, tomographic and immunological characteristics. Given that in the association between PF and AAV, as reported in the last years, PF could be the first manifestation of AAV, the search for ANCA in patients with PF may be necessary, as a cause of it and for the possible subsequent development of vasculitis.

Fibrosis pulmonar asociada a vasculitis con anticuerpos anticitoplasmáticos positivos / Pulmonary fibrosis associated with anti-neutrophil cytoplasmic antibody-positive vasculitis

Las complicaciones pulmonares más conocidas de las vasculitis con anticuerpos anticitoplasmáticos de los neutrófilos (ANCA) positivos (VAA), son la hemorragia alveolar, los granulomas y la estenosis de la vía aérea. En los últimos años han aparecido algunos informes aislados que muestran la asociación con fibrosis pulmonar (FP), sugiriendo que ésta sería otra complicación de las VAA. En este trabajo informamos dos casos con dicha asociación describiendo sus características clínicas, tomográficas e inmunológicas. Dado que en la asociación de FP y VAA notificada en los últimos años, la FP puede ser su primera manifestación, podría ser necesaria la búsqueda de ANCA en pacientes con FP, como causa de la misma y por el posible desarrollo posterior de vasculitis.(AU)

The most frequently observed pulmonary complications of vasculitis (AAV) with anti-neutrophil cytoplasmic positive antibodies (ANCA) are alveolar hemorrhage, granulomas and airway stenosis. In recent years, some reports have been published that show the association of vasculitis with pulmonary fibrosis (PF), suggesting that it may be another complication of AAV. We report and describe here two cases with such association, and their clinical, tomographic and immunological characteristics. Given that in the association between PF and AAV, as reported in the last years, PF could be the first manifestation of AAV, the search for ANCA in patients with PF may be necessary, as a cause of it and for the possible subsequent development of vasculitis.(AU)