Clinical Case Summary

A 56-year-old Chinese male with chronic history of alcohol consumption presented with mixed derangement of liver function tests(LFTs) (alanine transaminase 227 U/L, asparate transaminase 329 U/L, alkaline phosphatase 472 U/L) and focal swellings in the pancreatic head and body on magnetic resonance imaging(MRI). Liver and biliary tree imaging were unremarkable. Autoimmune workup revealed raised antinuclear antibodies (>1:640), anti-M2 antibody (103 u/mL) but a normal immunoglobin(Ig)G4 (53.9 mg/dL) level. Liver and pancreatic biopsies demonstrated interface hepatitis, bile duct damage and pancreatic fibrosis, consistent with primary biliary cholangitis(PBC) but not diagnostic of autoimmune hepatitis(AIH) or pancreatitis. Ursodeoxycholic acid(UDCA) was started without steroids and rapid LFTs improvement was noted. Alcohol intake was stopped.
At subsequent review two years after (due to defaulting visits), the patient remained asymptomatic but LFTs remained abnormal and IgG4 levels rose to 7051 mg/dL. IgG2 levels were raised at 11558 mg/dL. MRI showed stable pancreatic swelling without any biliary or liver abnormalities. Clinical examination noted proptosis and cranial imaging showed thickened supraorbital nerves. Orbital nerve biopsy confirmed IgG4-related disease(IgG4-RD). He was commenced on prednisolone 40 mg daily with tapering and UDCA was restarted.
Despite steroid therapy, LFTs remained raised. Repeat liver biopsy showed progression of interface hepatitis and bile duct damage. Multidisciplinary review concluded the histology was more consistent with AIH-PBC than IgG4-RD. A final diagnosis of concurrent IgG4-RD with AIH-PBC overlap syndrome was made. Azathioprine and fenofibrate were added with LFTs improvement.
This rare and complex case illustrates the multisystem nature of autoimmune disease in a male phenotype and highlights the risk of overlapping immune-mediated conditions. Timely recognition and management are essential to improving patient outcomes.

References

Image 1: Abdominal magnetic resonance imaging of focal swellings in the pancreatic head and body
Image 2: Initial liver biopsy histological slide image
Image 3: Second liver biopsy histological slide image
Image 4: Computed Tomography scan image of thickened supraorbital nerves
Image 5: Orbital nerve biopsy histological slide image