RESUMO
INTRODUCTION: For the diagnosis of liver diseases, clinical criteria, biochemical, immunological and histological parameters are included. The autoimmune panel is an immunoblot that contemplates the detection of antibodies against 9 different hepatic antigens, which could guide the diagnosis of these pathologies. OBJECTIVE: To describe the usefulness of the autoimmune panel in the diagnosis of liver diseases. Methods: Observational, descriptive study. All autoimmune panels performed between January 2020 and August 2021 (n = 279) were reviewed, and the ones with positive result selected (n = 101). Clinical records were reviewed, including: clinical, biochemical, immunological and histological characteristics. Diagnosis was determined by clinical suspicion (clinical, biochemical and immunological parameters), only through autoimmune panel, and according to liver biopsy in available cases. RESULTS: 45 patients with complete clinical history were included in the analysis; 82% women, median age 58 years (16-79). Clinical suspicions included autoimmune hepatitis (AIH) in 12 patients (27%), primary biliary cholangitis (PBC) in 10 patients (22%), overlap syndrome (AIH/PBC) in 17 (38%), and others in 6 (13%). The diagnosis of PBC was confirmed by autoimmune panel in 9/10 and 11/17 patients with clinical suspicion of PBC and HAI/PBC, respectively. Of the 27 patients with initial clinical suspicion of PBC, 14 had negative AMA and AMA-M2 (6 had Sp100 and 5 gp210 as the only markers and 3 had positive Sp100 and PML). In 10/14 patients, the diagnosis was confirmed by panel and/or compatible liver biopsy. CONCLUSION: The autoimmune panel turns out to be a useful diagnostic tool for liver diseases, especially PBC in isolation or in overlap syndrome.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Autoanticorpos/sangue , Immunoblotting/métodos , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/imunologia , Hepatite Autoimune/sangue , Hepatopatias/diagnóstico , Hepatopatias/imunologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/imunologia , Doenças Autoimunes/sangue , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/imunologia , Cirrose Hepática Biliar/sangueRESUMO
INTRODUCTION: For the diagnosis of liver diseases, clinical criteria, biochemical, immunological and histological parameters are included. The autoimmune panel is an immunoblot that contemplates the detection of antibodies against 9 different hepatic antigens, which could guide the diagnosis of these pathologies. OBJECTIVE: To describe the usefulness of the autoimmune panel in the diagnosis of liver diseases. METHODS: Observational, descriptive study. All autoimmune panels performed between January 2020 and August 2021 (n = 279) were reviewed, and the ones with positive result selected (n = 101). Clinical records were reviewed, including: clinical, biochemical, immunological and histological characteristics. Diagnosis was determined by clinical suspicion (clinical, biochemical and immunological parameters), only through autoimmune panel, and according to liver biopsy in available cases. RESULTS: 45 patients with complete clinical history were included in the analysis; 82% women, median age 58 years (16-79). Clinical suspicions included autoimmune hepatitis (AIH) in 12 patients (27%), primary biliary cholangitis (PBC) in 10 patients (22%), overlap syndrome (AIH/PBC) in 17 (38%), and others in 6 (13%). The diagnosis of PBC was confirmed by autoimmune panel in 9/10 and 11/17 patients with clinical suspicion of PBC and HAI/PBC, respectively. Of the 27 patients with initial clinical suspicion of PBC, 14 had negative AMA and AMA-M2 (6 had Sp100 and 5 gp210 as the only markers and 3 had positive Sp100 and PML). In 10/14 patients, the diagnosis was confirmed by panel and/or compatible liver biopsy. CONCLUSION: The autoimmune panel turns out to be a useful diagnostic tool for liver diseases, especially PBC in isolation or in overlap syndrome.
Assuntos
Autoanticorpos , Hepatite Autoimune , Immunoblotting , Hepatopatias , Humanos , Feminino , Autoanticorpos/sangue , Masculino , Pessoa de Meia-Idade , Adulto , Idoso , Adolescente , Adulto Jovem , Immunoblotting/métodos , Hepatite Autoimune/imunologia , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/sangue , Hepatopatias/imunologia , Hepatopatias/diagnóstico , Cirrose Hepática Biliar/imunologia , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/sangue , Doenças Autoimunes/imunologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/sangueRESUMO
Introducción. Las enfermedades autoinmunes del hígado son un grupo de patologías caracterizadas por una respuesta autoinmune contra los hepatocitos y/o el epitelio biliar. Sus manifestaciones clínicas son variadas, con alteraciones en las pruebas de función hepática y presencia de autoanticuerpos. Metodología. Estudio observacional descriptivo con 101 pacientes atendidos en el Hospital Universitario de La Samaritana de Bogotá D.C., entre enero a diciembre de 2019, con los diagnósticos de hepatitis autoinmune, colangitis biliar primaria, colangitis esclerosante primaria y síndrome de sobreposición. Se evaluaron los parámetros clínicos y de laboratorio, con el fin de caracterizar su frecuencia en estas patologías, debido a la importancia de un diagnóstico precoz. Resultados. Se encontraron 54 casos de hepatitis autoinmune, 19 casos de colangitis biliar primaria, 4 casos de colangitis esclerosante primaria y 24 casos de síndrome de sobreposición. El 81% fueron mujeres y la edad promedio fue de 55 años. El 39% de los pacientes tenían cirrosis. En general, los resultados se ajustaron a lo descrito internacionalmente, como es el predominio en mujeres y la comorbilidad autoinmune. Conclusión. Los hallazgos indican que cualquier alteración del perfil bioquímico hepático debe ser considerado, y se debe descartar la presencia de hepatopatías autoinmunes para diagnosticarlas de manera precoz, evitando que lleguen a cirrosis y sus complicaciones, con la necesidad de un trasplante hepático como única alternativa terapéutica.
Introduction. Autoimmune liver diseases are a group of pathologies characterized by an autoimmune response against hepatocytes and/or the biliary epithelium. Their clinical manifestations are varied, with alterations in liver function tests and the presence of autoantibodies. Methodology. Descriptive study with 101 patients who attended at the Hospital Universitario de La Samaritana in Bogota D.C., between January and December 2019, with the diagnoses of autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis and overlap syndrome. Clinical and laboratory parameters were evaluated in order to characterize their frequency in these pathologies, due to the importance of an early diagnosis. Results. There were 54 cases of autoimmune hepatitis, 19 cases of primary biliary cholangitis, 4 cases of primary sclerosing cholangitis, and 24 cases of overlap syndrome. Of all patients, 81% were women, the average age was 55 years, and 39% had cirrhosis. In general, the findings were consistent with what has been described worldwide, such as a higher prevalence in women and autoimmune comorbidity. Conclusion. The findings indicate that any alteration in the liver biochemical profile should be considered to rule out an autoimmune liver disease for an early diagnosis, avoiding the possibility of cirrhosis and its complications, with the need for a liver transplant as the only therapeutic alternative.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Autoimunidade , Hepatopatias/imunologia , Autoanticorpos/sangue , Síndrome , Colangite Esclerosante/diagnóstico , Colangite Esclerosante/imunologia , Estudos Retrospectivos , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/imunologia , Octogenários , Transaminases/sangue , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/imunologia , Hepatopatias/diagnósticoRESUMO
INTRODUCTION AND AIM: Primary biliary cholangitis is a rare disease with scarce epidemiological data in Southern Europe. The authors aimed to evaluate treatment response in a cohort of patients. MATERIALS AND METHODS: This retrospective observational single-centre study included patients with diagnostic criteria of primary biliary cholangitis. Data on disease presentation, laboratory results, treatment and clinical endpoints were collected and analyzed. RESULTS: Fifty-three patients were included, 89% women, with mean age of 62±15 years at diagnosis. The majority was asymptomatic (49%), tested positive for antimitochondrial antibodies (96%) and had increased alkaline phosphatase (median=214U/L). 75% of the patients had liver histology and the majority were in Ludwig's stage I (42%). Autoimmune hepatitis (AIH) features were found in seven patients (13%). All were treated with ursodeoxycholic acid (UDCA) and 56% achieved biochemical response at one year; patients with AIH features exhibited steeper decreases in alkaline phosphatase (p=0.007) and reached the endpoint of 40% decrease in alkaline phosphatase more frequently (p=0.017). CONCLUSION: In conclusion a significant proportion of patients failed to achieve an adequate response to UDCA treatment. The response rate of patients with AIH features was better, which could be related to a different phenotype or to the potential impact of immunosuppressive agents.
Assuntos
Hepatite Autoimune/complicações , Imunossupressores/uso terapêutico , Cirrose Hepática Biliar/terapia , Fígado/diagnóstico por imagem , Ácido Ursodesoxicólico/uso terapêutico , Idoso , Biópsia , Colagogos e Coleréticos/uso terapêutico , Colangiopancreatografia Retrógrada Endoscópica , Colangiopancreatografia por Ressonância Magnética , Quimioterapia Combinada , Feminino , Seguimentos , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/imunologia , Humanos , Cirrose Hepática Biliar/etiologia , Cirrose Hepática Biliar/imunologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , UltrassonografiaRESUMO
INTRODUCTION: Several groups have reported associations of primary biliary cholangitis with other autoimmune entities, particularly Sjögren's syndrome and hypothyroidism. Its prevalence and characteristics in Mexican patients is unknown. AIM: To determine the frequency and characteristics of autoimmune diseases in a Mexican cohort of patients with primary biliary cholangitis. MATERIALS AND METHODS: The medical records of patients that presented with primary biliary cholangitis within the time frame of 2005 and 2012 were reviewed and assessed for other autoimmune diseases. RESULTS: Seventy-eight patients, 75 women and 3 men, were included. Their mean age was 55.8 years. Seventy-three cases had positive antimitochondrial antibodies (94.8%) and disease was confirmed in 5 through liver biopsy. Five patients (8%) had anti-smooth muscle antibodies and 55/78 (70.5%) had antinuclear antibodies by indirect immunofluorescence. Forty-nine patients (62.8%) were positive for an autoimmune disease other than primary biliary cholangitis. Among those, 20 patients had one associated disease, 14 had 2, and 15 patients had 3 concomitant diseases. They included: Sjögren's syndrome in 23/78 patients (29.5%), dysthyroidism in 21/78 cases (26.9%), Raynaud syndrome in 11/78 (14.1%), CREST syndrome in 9/78 patients (11.4%), rheumatoid arthritis in 6/78 patients (7.7%), vitiligo in 5/78 (6.4%), scleroderma in 4/78 patients (5.1%), and other diseases in 8 patients. In 12/78 patients (15.4%), there was a documented family background of autoimmune disease. CONCLUSIONS: The presence of autoimmune associations in our cohort was frequent, and similar in characteristics to the information reported by other groups. The clinical implications of those findings remain to be determined.
Assuntos
Doenças Autoimunes/epidemiologia , Doenças Autoimunes/imunologia , Cirrose Hepática Biliar/epidemiologia , Cirrose Hepática Biliar/imunologia , Adulto , Idoso , Autoanticorpos/análise , Doenças Autoimunes/complicações , Estudos de Coortes , Comorbidade , Feminino , Humanos , Cirrose Hepática Biliar/complicações , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Síndrome de SjogrenRESUMO
Celiac disease (CD) is a systemic immune-mediated disorder triggered by dietary gluten in genetically predisposed individuals. The typical symptoms are anemia, diarrhea, fatigue, weight loss, and abdominal pain. CD has been reported in patients with primary sclerosing cholangitis, primary biliary cholangitis, autoimmune hepatitis, aminotransferase elevations, nonalcoholic fatty liver disease, hepatitis B, hepatitis C, portal hypertension and liver cirrhosis. We evaluate recommendations for active screening for CD in patients with liver diseases, and the effect of a gluten-free diet in these different settings. Active screening for CD is recommended in patients with liver diseases, particularly in those with autoimmune disorders, steatosis in the absence of metabolic syndrome, noncirrhotic intrahepatic portal hypertension, cryptogenic cirrhosis, and in the context of liver transplantation. In hepatitis C, diagnosis of CD can be important as a relative contraindication to interferon use. Gluten-free diet ameliorates the symptoms associated with CD; however, the associated liver disease may improve, remain the same, or progress.
Assuntos
Anticorpos/sangue , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Hepatopatias/complicações , Hepatopatias/imunologia , Doença Celíaca/imunologia , Colangite Esclerosante/complicações , Colangite Esclerosante/imunologia , Dieta Livre de Glúten , Glutens/efeitos adversos , Glutens/imunologia , Hepatite B/complicações , Hepatite B/imunologia , Hepatite C/complicações , Hepatite C/imunologia , Hepatite Autoimune/complicações , Hepatite Autoimune/imunologia , Humanos , Hipertensão Portal/complicações , Hipertensão Portal/imunologia , Cirrose Hepática/complicações , Cirrose Hepática/imunologia , Cirrose Hepática Biliar/complicações , Cirrose Hepática Biliar/imunologia , Falência Hepática/complicações , Falência Hepática/imunologia , Transplante de Fígado , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/imunologiaRESUMO
BACKGROUND: Autoimmune liver diseases (ALDs) are known to be associated with systemic autoimmune rheumatic diseases (SARDs) and their autoantibodies. We aimed to study the prevalence of SARDs and related autoantibodies, as well as their prognostic implications in a group of patients with ALDs. METHODS: This was a cross-sectional study. Sixty patients with ALDs (38.3% with autoimmune hepatitis; 11.7% with primary biliary cirrhosis; 25% with primary sclerosing cholangitis and 25% with overlap syndrome) were studied for the presence of SARDs and their autoantibodies. RESULTS: There was autoimmune rheumatic disease in 20% of the studied sample. Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) were the commonest (11.6% and 5%, respectively). Antinuclear antibodies (ANAs) were present in 35% of the patients, followed by anti-Ro (20.0%); anti-nucleosome (18.3%); rheumatoid factor (10%) anti-CCP (8.3%); anti-RNP (8.3%); anti-ds-DNA (6.6%); anti-La (3.3%); anti-Sm (3.3%), anti-ribosomal P (3.3%). Anti-Ro (p = 0.0004), anti-La (p = 0.03), anti-RNP (p = 0.04) and anti-Sm (p = 0.03) were commonly found in patients with SARD, but not anti-DNA, anti-nucleosome and anti-ribosomal P. No differences were found in liver function tests regarding to the presence of autoantibodies. CONCLUSIONS: There was a high prevalence of SARD and their autoantibodies in ALD patients. Anti-Ro, anti-La, anti-RNP and anti-Sm positivity points to an association with systemic autoimmune rheumatic diseases. The presence of autoantibodies was not related to liver function tests.
Assuntos
Anticorpos Antinucleares/sangue , Artrite Reumatoide/imunologia , Colangite Esclerosante/imunologia , Hepatite Autoimune/imunologia , Cirrose Hepática Biliar/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Prolapso da Valva Mitral/imunologia , Miopia/imunologia , Fator Reumatoide/sangue , Dermatopatias/imunologia , Adulto , Idoso , Artrite Reumatoide/sangue , Artrite Reumatoide/complicações , Artrite Reumatoide/diagnóstico , Autoantígenos/sangue , Autoantígenos/imunologia , Colangite Esclerosante/sangue , Colangite Esclerosante/complicações , Colangite Esclerosante/diagnóstico , Estudos Transversais , Feminino , Hepatite Autoimune/sangue , Hepatite Autoimune/complicações , Hepatite Autoimune/diagnóstico , Humanos , Fígado/imunologia , Fígado/metabolismo , Fígado/patologia , Cirrose Hepática Biliar/sangue , Cirrose Hepática Biliar/complicações , Cirrose Hepática Biliar/diagnóstico , Testes de Função Hepática , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Pessoa de Meia-Idade , Prolapso da Valva Mitral/sangue , Prolapso da Valva Mitral/complicações , Prolapso da Valva Mitral/diagnóstico , Miopia/sangue , Miopia/complicações , Miopia/diagnóstico , Dermatopatias/sangue , Dermatopatias/complicações , Dermatopatias/diagnósticoRESUMO
Autoimmune hepatitis (AIH) may present with clinical, laboratory abnormalities and histological features suggestive of primary biliary cirrhosis (PBC) or primary sclerosing cholangitis (PSC). These variants of AIH are known as overlap syndromes. We present a case of a 62 year-old-male who presented with altered liver function tests, anemia and unintentional weight loss. Initial laboratories revealed anemia and a cholestatic pattern. Diagnostic work-up was remarkable for a positive antinuclear antibodies (ANA) test and a liver biopsy suggestive of an AIH-PBC overlap syndrome. This case illustrates the complexity of establishing the diagnosis and effective therapy in this condition.
Assuntos
Hepatite Autoimune/diagnóstico , Cirrose Hepática Biliar/diagnóstico , Doenças do Tecido Conjuntivo Indiferenciado/diagnóstico , Anticorpos Antinucleares/imunologia , Biópsia , Hepatite Autoimune/imunologia , Humanos , Cirrose Hepática Biliar/imunologia , Masculino , Pessoa de Meia-Idade , Doenças do Tecido Conjuntivo Indiferenciado/imunologiaRESUMO
Cutaneous amyloidosis is a rare disease characterized by the deposition of amyloid in the dermis. It can be primary or secondary, depending on associated diseases. It has been linked to various autoimmune diseases, including primary biliary cirrhosis. We present the case of a patient with an autoimmune hepatitis-primary biliary cirrhosis overlap syndrome with concomitant cutaneous amyloidosis, a very unusual association, and discuss similar cases and possible pathophysiological implications.