A Rare Case of Autoimmune Hepatitis-Small Duct Primary Sclerosing Cholangitis Overlap Syndrome Related Chronic Liver Disease

Abstract

Background: Autoimmune hepatitis-primary sclerosing cholangitis (AIH-PSC) overlap syndrome is a rare condition combining features of AIH and PSC, often leading to chronic liver disease and portal hypertension. It presents diagnostic challenges due to its atypical manifestations and requires a combination of serological, histological, and imaging findings for accurate diagnosis.

Case Report: A 60-year-old male presented with recurrent hematemesis and melena for one year, without jaundice or abdominal pain. Examination revealed mild anemia, pruritus-related scratch marks and splenomegaly. Laboratory findings included microcytic hypochromic anemia, thrombocytopenia, elevated alkaline phosphatase, positive smooth muscle antibody (>1:80), and raised IgG. Upper GI endoscopy showed grade II esophageal varices with congestive gastropathy. MRI/MRCP indicated chronic liver disease with splenomegaly and gastroesophageal varices, but a normal extra and intrahepatic biliary tree. Liver biopsy shows features of cirrhosis along with moderate piecemeal necrosis and periductular onion skinning. The patient was diagnosed with AIH-small duct PSC overlap syndrome and treated with ursodeoxycholic acid, prednisone, azathioprine, propranolol and endoscopic variceal ligation.

Conclusion: This case underscores the importance of considering AIH-PSC overlap syndrome in atypical chronic liver disease presentations. Timely diagnosis and tailored treatment led to clinical improvement and no further bleeding on follow-up.