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Colangite esclerosante primária : da criança ao adulto : perspetiva atual
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A colangite esclerosante primária (CEP) é uma doença colestática crónica caracterizada por inflamação persistente e fibrose obliterativa dos ductos biliares intra-hepáticos, extra-hepáticos ou ambos, com potencial evolutivo para cirrose biliar secundária e falência hepática. É reconhecida como uma entidade multifatorial, desencadeada por uma sinergia entre fatores genéticos e ambientais. Trata-se de uma patologia imunomediada, cuja patogénese depende da anatomofisiologia do sistema hepatobiliar e da complexidade do eixo entero-hepático, numa relação que culmina frequentemente na associação entre a CEP e a doença inflamatória intestinal (DII). A CEP ocorre mais frequentemente no sexo masculino e pode surgir ao longo de todo o ciclo de vida, ainda que a sua incidência seja maior no adulto jovem. As manifestações e a evolução da doença diferem entre as populações adulta e pediátrica, mas ainda não é claro se a CEP na criança corresponde a uma entidade distinta ou se, por outro lado, constitui apenas um estadio precoce da mesma patologia que se observa no adulto. A incidência da CEP parece estar a aumentar, provavelmente como consequência do aparecimento de meios complementares não invasivos e do uso crescente de exames colangiográficos de rastreio em doentes com DII. A expressão fenotípica pode ser bastante variável e o seu reconhecimento permanece um desafio na prática clínica, já que os doentes poderão manter-se assintomáticos até um estadio evolutivo relativamente tardio. O diagnóstico baseia-se em achados clínicos e/ou laboratoriais compatíveis com síndrome colestática, na presença de alterações imagiológicas e/ou histológicas características. Atualmente, a colangiopancreatografia por ressonância magnética (CPRM) constitui a 1.ª linha de investigação diagnóstica. Ainda que sendo rara, a CEP é uma causa importante de morbi-mortalidade na população pediátrica. Apesar dos avanços recentes no conhecimento fundamental, translacional e clínico, esta permanece uma entidade clínica enigmática, de difícil abordagem e sem tratamento verdadeiramente eficaz. A presente revisão pretende caracterizar o perfil global da CEP, enfatizando as singularidades inerentes à população pediátrica, com base na evidência mais relevante disponível. Inclui a descrição das relações intricadas que se estabelecem entre os fatores etiopatogénicos, a história natural da doença e variabilidade fenotípica, sem descurar os desafios diagnósticos e terapêuticos, visando a melhor compreensão da doença na sua excecional complexidade.
Primary sclerosing cholangitis (PSC) is a chronic cholestatic disease characterized by persistent inflammation and obliterative fibrosis of either intrahepatic and/or extrahepatic bile ducts, which can progress to secondary biliary cirrhosis and hepatic failure. It is recognized as a multifactorial condition, triggered by the synergy of genetic and environmental factors. PSC is an immunomediated disease and its pathogenesis depends on the anatomophysiology of the hepatobiliary system and on the gut-liver axis interplay, eventually expressed by the frequent association between PSC and inflammatory bowel disease (IBD). PSC occurs more frequently in males and it may develop throughout the entire life cycle, although its incidence is higher in the young adult. The manifestations and the course of the disease differ between the adult and pediatric populations, but it is still unclear whether pediatric PSC corresponds to a distinct entity or if, on the other hand, it should be regarded as an early stage of the same entity observed in the adult population. PSC occurs more frequently in males and its incidence appears to be rising, probably as a consequence of the increased use of cholangiographic studies as a screening strategy in patients with IBD. The phenotypic expression of PSC may be quite variable and its recognition remains a great challenge in the clinical practice, as it may remain asymptomatic until a relatively late evolutionary stage. The diagnosis is based on clinical and laboratory findings compatible with a cholestatic syndrome in the presence of imagiologic and/or histologic characteristic changes. Currently, magnetic resonance cholangiopancreatography (MRCP) is considered the first line approach in the diagnostic investigation. Although being rare, PSC is an important cause of morbidity and mortality in the pediatric population. Despite recent advances in fundamental, translational and clinical research, it remains an enigmatic clinical entity, with a difficult management and without a truly effective treatment. The present review aims to characterize the overall profile of the PSC, giving special emphasis to the singularities inherent to the pediatric population, according to the most relevant available evidence. It includes a description of the intricate relationships established between pathophysiological factors, natural history and phenotypical variability, without neglecting the diagnostic and therapeutic challenges, aiming for a better understanding of the disease in its exceptional complexity.
Primary sclerosing cholangitis (PSC) is a chronic cholestatic disease characterized by persistent inflammation and obliterative fibrosis of either intrahepatic and/or extrahepatic bile ducts, which can progress to secondary biliary cirrhosis and hepatic failure. It is recognized as a multifactorial condition, triggered by the synergy of genetic and environmental factors. PSC is an immunomediated disease and its pathogenesis depends on the anatomophysiology of the hepatobiliary system and on the gut-liver axis interplay, eventually expressed by the frequent association between PSC and inflammatory bowel disease (IBD). PSC occurs more frequently in males and it may develop throughout the entire life cycle, although its incidence is higher in the young adult. The manifestations and the course of the disease differ between the adult and pediatric populations, but it is still unclear whether pediatric PSC corresponds to a distinct entity or if, on the other hand, it should be regarded as an early stage of the same entity observed in the adult population. PSC occurs more frequently in males and its incidence appears to be rising, probably as a consequence of the increased use of cholangiographic studies as a screening strategy in patients with IBD. The phenotypic expression of PSC may be quite variable and its recognition remains a great challenge in the clinical practice, as it may remain asymptomatic until a relatively late evolutionary stage. The diagnosis is based on clinical and laboratory findings compatible with a cholestatic syndrome in the presence of imagiologic and/or histologic characteristic changes. Currently, magnetic resonance cholangiopancreatography (MRCP) is considered the first line approach in the diagnostic investigation. Although being rare, PSC is an important cause of morbidity and mortality in the pediatric population. Despite recent advances in fundamental, translational and clinical research, it remains an enigmatic clinical entity, with a difficult management and without a truly effective treatment. The present review aims to characterize the overall profile of the PSC, giving special emphasis to the singularities inherent to the pediatric population, according to the most relevant available evidence. It includes a description of the intricate relationships established between pathophysiological factors, natural history and phenotypical variability, without neglecting the diagnostic and therapeutic challenges, aiming for a better understanding of the disease in its exceptional complexity.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2018
Palavras-chave
Colangite esclerosante primária Colangite esclerosante autoimune Doença inflamatória intestinal Transplante hepático Pediatria