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Type 1 autoimmune hepatitis (AIH) is a rare inflammatory disorder of the liver that may arise at any age, from infancy to adulthood. Long-standing autoimmune hepatitis may progress to cirrhosis and subsequent hepatocellular carcinoma (HCC). However, the true incidence of HCC in AIH patients is unknown as there is a paucity of published data. Currently, there are no established guidelines on screening patients with AIH for HCC. Without screening protocols, patients with AIH may present with late-stage HCC that may have been detected and treated earlier in the disease course. We describe a case of a patient with type 1 AIH who developed stage IIIB HCC in the absence of appropriate screening protocols with complex social determinants leading to barriers to access regular follow-up care.

Wilson disease (WD) is an autosomal recessive genetic disorder caused by mutations of ATP7B, a copper transporter, which results in impaired copper clearance. Its clinical manifestations are varied and can result in a mix of hepatic and neuropsychiatric symptoms. We present the case of a 26-year-old female with a past medical history of alcohol use who presented with right upper quadrant abdominal pain with associated vomiting, jaundice, and fatigue. She was found to have signs and symptoms of decompensated cirrhosis and was initially concerned about superimposed alcoholic hepatitis. With low ceruloplasmin and alkaline phosphatase, the suspicion for WD remained, and the patient underwent liver transplantation due to her worsening clinical status. The quantitative hepatic copper content of the explanted liver was elevated, and genetic testing confirmed the diagnosis of WD. Our case highlights the importance of including WD in the differential of a young patient with severe liver disease, and it highlights the utility of the phosphatidyl ethanol (PEth) test as a marker for chronic severe alcohol use. In patients with a significant alcohol use history, the diagnosis of WD should still be considered for those with reasonable clinical suspicion.

Our study aims to assess improvement with symptomatic treatment of pain-related functional gastrointestinal disorders (FGIDs) in a biopsychosocial construct and evaluate validity of Rome III criteria. Children with chronic abdominal pain diagnosed with an FGID or organic disease were followed for 1 year: 256/334 were diagnosed with an FGID and 78/334 were diagnosed with a possible organic disease due to alarm signs or not meeting Rome III criteria. After 1 year, 251 had true FGID and 46 had organic diseases. Ninety percent of FGID patients improved with symptomatic treatment over an average of 5.4 months. With a 95% confidence interval, Rome criteria predicted FGIDs with sensitivity 0.89, specificity 0.90, positive predictive value 0.98, and negative predictive value 0.59. We conclude that symptomatic treatment of pain-related FGIDs results in clinical improvement and could reduce invasive/expensive testing. Rome III criteria’s high specificity and positive predictive value suggest they can rule in a diagnosis of FGID.

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