Optimización del algoritmo diagnóstico de anticuerpos antinucleares / Optimization of the diagnostic algorithm of antinuclear antibodies

Introducción: La prueba de anticuerpos antinucleares es una poderosa herramienta en el diagnóstico de las enfermedades reumáticas. Los anticuerpos antinucleares se determinan en el laboratorio por un algoritmo o secuencia que se inicia con prueba de cribado y sigue con la identificación de las especificidades antinucleares más comunes. Pero, ¿cómo interpretar los resultados discordantes entre los dos niveles de estudio de anticuerpos antinucleares? Objetivo: Determinar las especificidades antinucleares menos frecuentes en pacientes positivos de cribado de ANA y negativos de las especificidades más comunes. Métodos: Estudio prospectivo de 88 pacientes consecutivos remitidos para la detección rutinaria de ANA con resultado positivo de cribado por ensayo inmuno-adsorbente ligado a enzima (ELISA) pero negativo de anticuerpos anti-ADN de doble cadena (dc, IgG) y anti-antígenos nucleares extraíbles comunes (ENAc). Las muestras séricas correspondientes fueron evaluadas por inmunofluorescencia indirecta sobre células de carcinoma epidermoide laríngeo humano (IFI-HEp-2) y por ELISA para la detección individual de ANA específicos. Resultados: La prueba de ANA por IFI/HEp-2 resultó positiva en 56/88 (63,6 por ciento) y las especificidades antinucleares se detectaron en 57/88 (64,8 por ciento) muestras, en el orden decreciente de Anti-Nucs: 16/88 (18,2 por ciento); anti-centrómero (CENP-B): 15/88 (17,0 por ciento); -histona: 15/88 (17 por ciento); -PM/Scl: 13/88 (14,8 por ciento); -ADNsc: 11/88 (12,5 por ciento) y -ENAc individuales: 8/88 (9,1 por ciento). La sensibilidad de la IFI-HEp-2 para las especificidades antinucleares fue de 0,83 (IC95 por ciento: 0,72-0,93). De los pacientes negativos de subserología (26/31), 83,9 por ciento no tenían antecedentes de enfermedad reumática asociada a ANA. Conclusiones: La mayoría de los pacientes con resultados discordantes entre el primer y segundo nivel de ANA fueron positivos de especificidades antinucleares menos comunes, pero de reconocido valor diagnóstico(AU)

Introduction: The antinuclear antibody test is a powerful tool for diagnosing rheumatic diseases. Antinuclear antibodies are determined in the laboratory by an algorithm or sequence that starts with a screening test and continues with the identification of the most common antinuclear specificities. But how to interpret the discordant results between the two levels of study of antinuclear antibodies? Objective: To determine the less frequent antinuclear specificities in positive patients of ANA screening and negative of the most common specificities. Methods: A prospective study was done on 88 consecutive patients referred for the routine ANA screening with a positive result of screening by enzyme-linked immunosorbent assay (ELISA) but negative for anti-double-stranded DNA (dc, IgG) and common extractable anti-nuclear antigens (ENAc). The corresponding serum samples were evaluated by indirect immunofluorescence on human laryngeal epidermoid carcinoma cells (IFI-HEp-2) and by ELISA for the individual detection of specific ANA. Results: The ANA test by IFI / HEp-2 was positive in 56/88 (63.6 percent) and the antinuclear specificities were detected in 57/88 (64.8 percent) samples, in decreasing Anti-Nucs order: 16/88 (18.2 percent); anti-centromere (CENP-B): 15/88 (17.0 percent); -histona: 15/88 (17 percent); -PM / Scl: 13/88 (14.8 percent); -ADNsc: 11/88 (12.5 percent) and -ENAc individual: 8/88 (9.1 percent). The sensitivity of IFI-HEp-2 for antinuclear specificities was 0.83 (95 percent CI: 0.72-0.93). No history of rheumatic disease associated with ANA was read in (26/31) 83.9 percent patients with negative subserology. Conclusions: The majority of patients with discordant results between the first and second level of ANA were positive of less common antinuclear specificities, but of recognized diagnostic value(AU)

Esclerosis sistémica (esclerodermia) asociada con cirrosis biliar primaria / Systemic sclerosis (scleroderma) associated with primary biliary cirrhosis

Resumen La esclerosis sistèmica (esclerodermia) es la enfermedad reumática autoinmunitaria asociada más comúnmente con cirrosis biliar primaria. La relación entre la forma cutánea limitada de esclerosis sistémica y cirrosis biliar primaria se describió en el decenio de 1970. Se comunica el caso de una paciente de 65 años de edad con esclerosis sistémica cutánea limitada de larga evolución, positiva a anticuerpos contra centròmero y mitocondria. La biopsia hepática confirmó cirrosis biliar primaria en fase portal (estadio 1).

Abstract Systemic sclerosis (scleroderma) is an autoimmune rheumatic disease most commonly associated with primary biliary cirrhosis. The relationship between limited cutaneous systemic sclerosis and primary biliary cirrhosis was first described in the early 1970's decade. The case of 65 year-old woman with limited cutaneous systemic sclerosis and primary biliary cirrhosis seropositive for anticentromere and anti-mitochondrial antibodies is reported. Liver biopsy confirmed primary biliary cirrhosis in stage 1.

Autoanticorpos em esclerose sistêmica e sua correlação com as manifestações clínicas da doença em pacientes do Centro-Oeste do Brasil / Autoantibodies in systemic sclerosis and their clinical correlation in patients from a Midwestern region of Brazil

Introdução: a esclerose sistêmica (ES) é uma enfermidade do tecido conjuntivo de caráter autoimune caracterizada pela tríade de injúria vascular, autoimunidade (celular e humoral) e fibrose tecidual. Os autoanticorpos não parecem ser simplesmente epifenômenos, mas sim estarem envolvidos na patogênese da doença. Acredita-se que os autoanticorpos específicos da ES são responsáveis tanto pela amplificação da resposta imune quanto por alvejar os tipos celulares que são relevantes na fisiopatologia da ES. Objetivos: correlacionar o perfil de autoanticorpos específicos (anti-SCL70, ACA, anti-POL3) com as manifestações clínicas e laboratoriais observadas em 46 pacientes com ES da região Centro-Oeste do Brasil. Métodos: pesquisou-se a ocorrência de autoanticorpos específicos em 46 pacientes com diagnóstico de ES e correlacionou-se o tipo de autoanticorpo com as manifestações clínicas e laboratoriais encontradas. Resultados: dentre todos os pacientes avaliados, encontrou-se predomínio feminino (97,8%), idade média de 50,21 anos, cor branca (50%), forma limitada da doença (47,8%), tempo de diagnóstico entre cinco e 10 anos (50%) e tempo de evolução da doença de 9,38 anos. De acordo com o autoanticorpo específico, 24 pacientes apresentavam ACA positivo (52,2%), 15 apresentavam positividade para anti-SCL70 (32,6%) e sete apresentavam anti-POL3 positivo (15,2%). O autoanticorpo anti-SCL70 se correlacionou com a forma difusa da doença, com maior gravidade e atividade da doença, com pior qualidade de vida medida pelo índice HAQ, com maior prevalência de fenômeno de Raynaud objetivo e microcicatrizes de polpas digitais. O ACA se correlacionou com a forma limitada da doença, com o início mais precoce da enfermidade, bem como com maior prevalência de telangiectasias nos pacientes. Já o anti-POL3 se correlacionou com a forma difusa da doença, com maior ocorrência de fenômeno de Raynaud subjetivo e de atrofia muscular. Para as demais variáveis relacionadas ...

Introduction: Systemic sclerosis (SSc) is a connective tissue disease of autoimmune nature characterized by the triad of vascular injury, autoimmunity (cellular and humoral) and tissue fibrosis. Autoantibodies do not seem to be simply epiphenomena, but are involved in disease pathogenesis. It is believed that the SSc-specific autoantibodies are responsible both for amplifying immune response and targeting cell types that are relevant in the pathophysiology of SSc. Objectives: To correlate the profile of the following specific autoantibodies: anti-centromere (ACA), anti-topoisomerase I (topo I) and anti-RNA polymerase III (RNAP III) with clinical and laboratory manifestations were observed in 46 patients with SSc in the Midwest region of Brazil. Methods: The occurrence of specific autoantibodies in 46 patients with SSc was investigated, correlating the type of autoantibody with clinical and laboratory manifestations found. Results: Among all patients evaluated, we found a predominance of females (97.8%), mean age 50.21 years old, Caucasian (50%), limited cutaneous SSc (47.8%), time of diagnosis between 5 and 10 years (50%), and disease duration of 9.38 years. According to the specific autoantibody profile, 24 patients were ACA-positive (52.2%), 15 were positive for anti-topo I (32.6%), and 7 showed positive anti-RNAP III (15.2%). The anti-topo I autoantibody correlated with diffuse scleroderma, with greater disease severity and activity, with worse quality of life measured by the SHAQ index, with a higher prevalence of objective Raynaud's phenomenon and digital pitting scars of fingertips. The ACA correlated with limited scleroderma, with earlier onset of disease, as well as higher prevalence of telangiectasias. The anti-RNAP III correlated with diffuse scleroderma, with a higher occurrence of subjective Raynaud's phenomenon and muscle atrophy. There was no association between the positivity for anti-topo I, ACA and anti-RNAP III antibodies ...

Síndrome RACAND: presentación de un caso y diagnósticos diferenciales / RACAND syndrome: a case report and differential diagnoses

Se describe una mujer de 57 años, tabaquista, con necrosis digital, fenómeno de Raynaud y anticuerpo anticentrómero en ausencia de esclerodactilia, esclerodermia proximal y distal y trastornos esofágicos. Fueron descartadas patologías neoplásicas, otras enfermedades del tejido conectivo y enfermedades vasculares, las cuales no fueron desarrolladas durante el tiempo de seguimiento de esta paciente. Se concluye que la paciente tuvo un síndrome RACAND, el cual no evolucionó a otra enfermedad del tejido conectivo hasta el fallecimiento de la misma.

We described a 57-year old woman smoker, with digital necrosis, Raynaud phenomenon and positive anticentromere antibody. Shedidn’t show sclerodactily, proximal or distal scleroderma or esophagealdisorders. Malignancies, other connective tissues diseases andvascular diseases were ruled out and were not developed during thefollow up. We conclude that this patient had a RACAND syndrome,which do not evolved into other connective disease until the deathof the patient.