Autoimmune hepatitis (AIH)-primary biliary cholangitis (PBC) overlap syndrome, a rare autoimmune liver disease, needed an uncommon approach to diagnosis and treatment, according to a case study published recently in Cureus.
Autoimmune liver diseases such as AIH-PBC overlap syndrome “present significant diagnostic and therapeutic challenges due to overlapping features and potential for severe complications,” the study’s authors noted.
While no standardized treatment guidelines exist for the condition, a combination of immunosuppressants and bile acid therapy has shown promising results. This recent case highlights how early intervention can mean better health after treatment.
A 42-year-old man presented with elevated liver enzymes, persistent itching, bloating, and upper abdominal pain. Although proton pump inhibitors provided some relief, his symptoms persisted. He had no history of alcohol or drug use, recent travel, or family history of liver disease. Physical examination revealed scratch marks on his abdomen and legs, but no jaundice, enlarged liver, or signs of chronic liver disease. Blood tests showed abnormal liver function with elevated liver enzymes and bilirubin, suggesting cholestasis, a condition where bile flow is impaired.
Imaging studies, including an abdominal ultrasound and MRI, identified mild fatty liver changes but no major bile duct abnormalities. Further blood work revealed a highly positive antinuclear antibody titer, weakly positive anti-smooth muscle antibodies, and significantly elevated immunoglobulin G, all suggesting an autoimmune liver condition. A liver biopsy confirmed chronic inflammation, with findings characteristic of both AIH and PBC. Using the Paris criteria, a diagnostic tool for overlap syndromes, doctors determined the patient met the requirements for AIH-PBC overlap syndrome.
Read more about PBC testing and diagnosis
Treatment began with ursodeoxycholic acid, a medication that improves bile flow, alongside prednisolone and azathioprine, which suppress immune system activity. Over time, the patient experienced significant relief from symptoms, and follow-up tests showed improved liver enzyme levels. This response aligns with the recommended treatment approach, although long-term monitoring remains crucial to prevent progression of disease.
“Regular monitoring of liver function, autoimmune markers, and potential complications is essential to achieving remission and optimizing long-term outcomes,” the authors explained.
Though separate diseases, AIH and PBC share some immune-related mechanisms, leading to cases where both conditions coexist. The overlap syndrome is uncommon, however, especially in men.
The study’s authors noted that early recognition of AIH-PBC overlap syndrome allowed for targeted therapy, improving quality of life and reducing the risk of severe liver complications. Patients diagnosed with this condition benefit from ongoing medical supervision, as regular testing helps ensure treatment remains effective and complications are minimized.
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