Autoimmune liver diseases and overlap syndromes in children with inflammatory bowel diseases.

UNLABELLED: Autoimmune liver diseases (AILDs)-including autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and autoimmune sclerosing cholangitis (ASC)/AIH-PSC overlap-are clinically relevant extraintestinal manifestations (EIMs) of pediatric inflammatory bowel disease (IBD). This review summarizes current evidence on epidemiology, pathogenesis, diagnosis, management, and outcomes, highlighting key diagnostic challenges and therapeutic limitations. A narrative review of 57 studies, including both adult and pediatric cohorts, published between 1995 and 2026, was conducted. ESPGHAN, NASPGHAN, and AASLD guidelines were also reviewed. Clinical characteristics, imaging and laboratory findings, treatment approaches, and outcomes were synthesized qualitatively. Pediatric IBD-associated AILDs affect 6-7% of children, predominantly those with ulcerative or extensive colitis, and frequently present as overlap phenotypes combining hepatitis and cholangiopathy features. Diagnosis is challenging due to variable liver biochemistry and the limited specificity of enzymes. Gamma-glutamyl transferase (GGT) is the most informative cholestatic marker, while ultrasound and magnetic resonance cholangiopancreatography (MRCP) are complementary imaging modalities; liver biopsy remains essential for overlap phenotypes and fibrosis staging. Immunosuppression effectively controls hepatitis inflammation, whereas no disease-modifying therapy exists for pediatric PSC. Longitudinal monitoring using liver biochemistry, imaging, and risk stratification tools such as the Sclerosing Cholangitis Outcomes in Pediatrics (SCOPE) index for PSC is crucial. Event-free survival in PSC is approximately 70% at 5 years, with 10-30% of children requiring liver transplantation.

CONCLUSION: Pediatric IBD-associated AILDs represent a heterogeneous and high-risk group of disorders. Multimodal diagnostic strategies and immunosuppressive therapy are central to management; however, effective treatments for PSC remain lacking, highlighting major unmet clinical needs.

WHAT IS KNOWN: • Autoimmune liver diseases (AILDs) are clinically relevant extraintestinal manifestations in pediatric IBD and often present with subtle or asymptomatic biochemical abnormalities. • Hepatic inflammation can be effectively treated with immunosuppression, but there are few treatments for cholangiopathy; long-term monitoring with liver biochemistry, imaging, and biopsy is advised.

WHAT IS NEW: • The need for systematic hepatic surveillance even during remission is supported by the possibility that liver disease in pediatric IBD-associated AILDs may advance independently of intestinal activity. • A stepwise approach integrating GGT-based screening, early MRCP, and noninvasive tools (ultrasound and SCOPE index) may improve early detection and risk stratification, although pediatric-specific criteria and disease-modifying therapies remain unmet needs.