Autoimmune hepatobiliary disease in trisomy 21

Two patients with abnormal liver biochemistry are presented with hepatobiliary disorders rarely described in trisomy 21. The first was considered to have primary sclerosing cholangitis (PSC) and Crohn's disease. Liver biochemistry was normal after six months' treatment with ursodeoxycholic acid and diarrhea resolved after sulfasalazine. The second patient had autoimmune hepatitis that responded to immunosuppression. Autoimmune hepatobiliary disorders, highlighted by this report, occur in trisomy 21 but are rare. A high index of suspicion for these potentially treatable disorders is required.