AMA-Negative Primary Biliary Cholangitis and Autoimmune Hepatitis Overlap Syndrome Presenting With Bullous...

Multiple autoimmune syndrome involves the concurrent presentation of at least three separate autoimmune conditions in one individual. When patients present with both autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC) simultaneously, it is referred to as AIH-PBC overlap syndrome. About 1%-3% of PBC patients and 7% of AIH patients present with the overlap syndrome. A 45-year-old woman presented with jaundice for 1.5 years along with skin lesions on her legs, abdomen, and upper chest for 3 weeks. It was associated with generalized itching and weight loss. Physical examination revealed anemia, jaundice, enlarged liver and multiple crusted lesions representing bullous pemphigoid (BP). Investigations showed microscopic hypochromic anemia, positive ANA, and negative anti-Smith and anti-double-stranded DNA antibodies. Imaging showed hepatomegaly and porta hepatitis lymphadenopathy. Congestive gastropathy was also observed on endoscopy, and there was no biliary tract dilatation on MRCP. There were chronic inflammation, portal tract expansion, necrosis, and cholestasis on liver biopsy. Despite treatment, the patient succumbed 1 month postadmission. This case report reflects the challenges associated with the management of overlap syndrome, including primary biliary cholangitis, autoimmune hepatitis, and BP. Rapid deterioration of the patient highlighted the need for early diagnosis and management of such patients.