Doença hepática rara caracterizada pela sobreposição de colangite biliar primária e/ou colangite esclerosante primária com hepatite autoimune, definida pela presença de pelo menos 2 em 3 critérios bioquímicos, sorológicos e histológicos reconhecidos de cada doença. A sobreposição fenotípica das doenças pode ser simultâneo ou sequencial, com intervalo variável de anos. A idade de início, a predisposição de género e o fenótipo clínico variam entre cada uma das doenças, e a apresentação clínica varia desde casos assintomáticos ou sintomas inespecíficos, como fadiga, artralgia e prurido, a cirrose e descompensação, ou também hepatite aguda e fulminante e insuficiência hepática. A associação com doenças autoimunes extra-hepáticas é comum.
Introdução
O que você precisa saber de cara
Colangite esclerosante primária (CEP) é uma doença crônica e progressiva do fígado e da vesícula biliar, caracterizada por inflamação e fibrose das vias biliares, que normalmente permitem que a bile drene da vesícula biliar. Indivíduos afetados podem não apresentar sintomas ou podem manifestar sinais e sintomas de doença hepática, como icterícia, coceira e dor abdominal.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de sobreposição fenotípica de colangite biliar primária/colangite esclerosante primária e hepatite autoimune
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Publicações mais relevantes
Autoimmune hepatitis overlap syndrome: Clinical presentation, treatment response, and disease evolution: Tertiary centre experience.
Autoimmune hepatitis (AIH) overlap syndromes are conditions wherein features of AIH coexist with those of primary sclerosing cholangitis (PSC) or primary biliary cholangitis (PBC). We aimed to evaluate their clinical presentation, treatment response, and disease outcome in an Arab cohort. AIH overlap patients, based on the Paris criteria for PBC/AIH overlap ( n = 19), and revised International Autoimmune Hepatitis Group (IAIHG) score for PSC/AIH overlap ( n = 17) were reviewed at a single center in Saudi Arabia, from 2001 to 2024. Biopsy-proven standalone AIH patients ( n = 93) were included as controls. The primary endpoint was disease progression, liver transplantation, or mortality. Overall, the AIH and overlap syndrome cohorts were diagnosed at similar ages. Post-treatment Model for End-stage Liver Disease (MELD) and Child-Turcotte-Pugh (CTP) scores did not improve in the PBC/AIH cohort ( P > 0.05), while in PSC/AIH, the CTP ( P = 0.005) and Mayo Clinic scores improved ( P = 0.002). In PBC/AIH and PSC/AIH cohorts, disease progression and disease remission rates were comparable. The median relapse-free survival (RFS) was 10.4 years for PBC/AIH, and 13.8 years for PSC/AIH cohorts ( P = 0.256). The 5- and 10-year RFS rates for the AIH, PBC/AIH, and PSC/AIH cohorts were 92.3% and 72.7%, 81.3% and 53.4%, and 81.4% and 67.9%, respectively. Higher initial Mayo ( P = 0.035) and CTP score ( P = 0.028) predicted development of disease composite endpoint (disease progression, liver transplantation, or death). Despite lack of standardized treatment protocols, AIH, and overlap syndromes respond comparably well to treatment, in addition to similar disease remission and RFS between PBC/AIH and PSC/AIH patients. More extended follow-up studies are warranted for patients with overlap syndrome.
Quality of Life in Patients With Variant Syndromes of Autoimmune Liver Diseases-A Cross-Sectional Multicentre Study.
Primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC) and autoimmune hepatitis (AIH) go along with reduced health-related quality of life (HRQOL). Variant syndromes, that is, conditions with features of both PBC/PSC and AIH, are associated with higher clinical complexity and worse prognosis. Studies on HRQOL in patients with variant syndromes are lacking. We aimed to provide large-scale evidence addressing this gap. We included adult patients with clinical diagnoses of autoimmune liver diseases across nine countries in a cross-sectional study. We descriptively compared demographical, clinical and patient-reported outcomes between the conditions and investigated whether additional AIH contributes to reduced HRQOL compared to the cholestatic liver disease alone. Further, we explored the role of fatigue, cirrhosis and depression severity regarding HRQOL. N = 1275 patients were included (PBC: n = 342, PBC-AIH: n = 160, PSC: n = 305, PSC-AIH: n = 121, AIH: n = 347). Patients with variant syndromes showed high rates of cirrhosis and increased depressive or anxiety symptoms. Additional AIH was associated with further reduction in physical and mental HRQOL in people with PSC (physical: ΔR2 = 0.012, p = 0.041; mental: ΔR2 = 0.016, p = 0.020), but not with PBC (physical: ΔR2 = 0.008, p = 0.081; mental: ΔR2 = 0.001, p = 0.609). Physical HRQOL was associated with higher age and fatigue, while mental HRQOL was associated with lower age, fatigue, and depression severity. Patients with variant syndromes of autoimmune liver diseases show high physical and mental burden, with fatigue as the main contributor. Particularly PSC-AIH goes along with more severely reduced HRQOL compared to the cholestatic liver disease alone, which is attributable to a higher symptom burden.
Triple autoimmune overlap syndrome of the liver: a rare case of concomitant PBC, PSC, and AIH.
Triple overlap syndrome involving autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) is an exceptionally rare autoimmune hepatopathy, posing major diagnostic and therapeutic challenges. A 51-year-old woman initially diagnosed with AIH-PBC overlap presented persistent hepatocellular cytolysis despite corticosteroids and ursodeoxycholic acid. Autoimmune screening revealed ANA, anti-M2, and anti-gp210 positivity. Repeat liver biopsy showed interface hepatitis, ductopenic lymphocytic cholangitis, and periductal fibrosis. Magnetic resonance cholangiography demonstrated an attenuated intrahepatic biliary tree with a "pruned-tree" appearance, confirming PSC features. The diagnosis of AIH-PBC-PSC triple overlap was established. Due to azathioprine intolerance and hepatotoxicity, therapy was switched to mycophenolate mofetil with UDCA and low-dose corticosteroids, resulting in biochemical stabilization. This case represents one of the few well-documented instances of AIH-PBC-PSC overlap. It underscores the importance of integrating serology, histology, and advanced imaging for accurate diagnosis and individualized therapy. In the absence of standardized guidelines, management relies on tailored immunosuppression and supportive care to prevent progression toward liver failure. This report discusses a very rare liver condition where three autoimmune diseases—AIH, PBC, and PSC—occur together. Because these diseases normally occur separately, having all three at once makes the diagnosis and treatment more difficult. We describe a 51-year-old woman whose tests, liver biopsy, and MRI scans showed signs of all three conditions. The standard treatments did not work well, so her doctors used a combination including corticosteroids, ursodeoxycholic acid, and mycophenolate mofetil. Her blood tests later stabilized. This case shows how important it is for doctors to combine different types of tests to reach the right diagnosis and to adapt treatment individually when guidelines do not exist.
Difficult to treat and refractory autoimmune hepatitis: Recent advances in pharmacological management.
Autoimmune hepatitis (AIH) is a rare cause of chronic liver disease. The exact pathophysiology of AIH is unknown. Breakdown of self-tolerance against hepatic antigens and molecular mimicry are often implicated in the pathogenesis of AIH. Immunosuppressive therapy is the mainstay of treatment; however, 10%-25% of patients with AIH may not respond to primary therapy. Those patients are often salvaged with second- and third-line immunosuppressive therapy. Workup for other concomitant diseases should be done for patients who fail to respond to primary immunosuppressive therapy. Concurrent metabolic dysfunction-associated steatotic liver disease, alcohol-related liver disease, overlap syndrome (AIH with primary biliary cholangitis or sclerosing cholangitis), chronic hepatitis B virus, hepatitis C virus, and human immunodeficiency virus infection should be ruled out in such cases. Targeting the concomitant etiology may lead to resolution of the clinical symptoms and induce biochemical and histological remission. Isolated AIH without other etiologies for liver injury should be managed with a higher dose of steroids, azathioprine, or other immunosuppressive agents. Second- and third-line immunosuppressive agents include mycophenolate mofetil, cyclosporine, tacrolimus, infliximab, and rituximab. Patients with AIH may present with acute severe AIH (AS-AIH) and AIH-related acute on chronic liver failure, and they often require liver transplantation. The terms refractory or difficult-to-treat AIH have been used interchangeably and have no distinct definition. Difficult-to-treat AIH includes patients with intolerable side effects, fulminant disease (AIH with acute on chronic liver failure and AS-AIH), AIH in pregnancy, and HIV infection. Patients who fail to respond to standard first-line immunosuppressive therapy should be classified as refractory AIH. This review addresses the issues in the management of difficult-to-treat AIH with recent advances in pharmacological management.
What determines survival in autoimmune liver disease overlap syndromes: A critical commentary.
Recently, Jayabalan et al published an important study. The authors defined the liver outcome score as a novel biomarker for predicting liver-related mortality in patients with autoimmune hepatitis-primary biliary cholangitis overlap syndrome. After thoroughly reviewing their work, we offer insights that primarily relate to their study design to enhance the medical community's understanding of this complex disease.
Publicações recentes
Quality of Life in Patients With Variant Syndromes of Autoimmune Liver Diseases-A Cross-Sectional Multicentre Study.
Prevalence and clinicopathological Spectrum of Auto-Immune Liver Diseases & Overlap syndrome.
Ulcerative colitis complicated by primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome: a case report and literature review.
Overlap syndrome of primary biliary cholangitis and primary sclerosing cholangitis: two case reports.
Ulcerative colitis complicated by autoimmune hepatitis-primary biliary cholangitis-primary sclerosing cholangitis overlap syndrome.
📚 EuropePMCmostrando 87
Autoimmune hepatitis overlap syndrome: Clinical presentation, treatment response, and disease evolution: Tertiary centre experience.
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Liver international : official journal of the International Association for the Study of the LiverTriple autoimmune overlap syndrome of the liver: a rare case of concomitant PBC, PSC, and AIH.
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World journal of hepatologyA case of membranous nephropathy complicated by autoimmune hepatitis and primary biliary cholangitis.
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Biochimica et biophysica actaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de sobreposição fenotípica de colangite biliar primária/colangite esclerosante primária e hepatite autoimune.
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Autoimmune hepatitis overlap syndrome: Clinical presentation, treatment response, and disease evolution: Tertiary centre experience.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association· 2026· PMID 41637192mais citado
- Quality of Life in Patients With Variant Syndromes of Autoimmune Liver Diseases-A Cross-Sectional Multicentre Study.Liver international : official journal of the International Association for the Study of the Liver· 2026· PMID 41623132mais citado
- Triple autoimmune overlap syndrome of the liver: a rare case of concomitant PBC, PSC, and AIH.
- Difficult to treat and refractory autoimmune hepatitis: Recent advances in pharmacological management.
- What determines survival in autoimmune liver disease overlap syndromes: A critical commentary.
- Prevalence and clinicopathological Spectrum of Auto-Immune Liver Diseases & Overlap syndrome.
- Ulcerative colitis complicated by primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome: a case report and literature review.
- Overlap syndrome of primary biliary cholangitis and primary sclerosing cholangitis: two case reports.
- Ulcerative colitis complicated by autoimmune hepatitis-primary biliary cholangitis-primary sclerosing cholangitis overlap syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:562639(Orphanet)
- MONDO:0034189(MONDO)
- Hepatite Autoimune(PCDT · Ministério da Saúde)
- GARD:22250(GARD (NIH))
- Busca completa no PubMed(PubMed)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
