S3525 Primary Biliary Cholangitis: A Not so Primary Suspect

Abstract

INTRODUCTION: Primary biliary cholangitis (PBC) is an increasingly prevalent autoimmune (AI) chronic cholestatic disease with specific bile duct pathology. The anti-mitochondrial antibody (AMA) is found in 95% of cases and is highly specific for PBC. It is most commonly seen in females (90–95%), Caucasians, and age of diagnosis usually ranges from 30 to 65 years old. The most common symptoms include fatigue and pruritus. We present a case of an adult African male presenting with jaundice who was AMA negative and found to have PBC. CASE DESCRIPTION/METHODS: A 60-year-old African male with a past medical history of diabetes mellitus, hypertension and sickle cell trait presented with jaundice, fatigue, diffuse itching, and a 14 lb unintentional weight loss over 6 months. He had no risk factors for viral hepatitis, did not consume alcohol, and had no personal or family history of AI disorders. Physical exam was notable for scleral icterus and excoriations on extremities. Labs revealed a total bilirubin of 10.1 mg/dL, alkaline phosphatase 840 IU/L, AST/ALT 78/54 IU/L, INR 1.2 and normal iron studies. Viral hepatitis panel was negative for hepatitis A, B and C with negative AMA, ANA, and anti actin antibody. A MRCP revealed early cirrhosis vs. hepatitis, mild ascites and suboptimal visualization of the pancreatic duct but no evidence of biliary duct dilatation. EGD and colonoscopy findings were normal. EUS was done in which a prominent pancreatic head was seen; biopsies were negative. An ERCP revealing ductopenia and small intrahepatic ducts. A liver biopsy revealed pericholangitis and bridging fibrosis consistent with PBC. He was started on ursodeoxycholic acid. One month later he was seen in clinic with resolution of fatigue and pruritus. Labs revealed a total bilirubin of 5 mg/dL down from 10 mg/dL and an alkaline phosphatase of 470 IU/L down from 840 IU/L with AST/ALT 85/38 IU/L. DISCUSSION: Although PBC is commonly diagnosed in women and AMA is positive 95% of time, this case identifies an African male with negative AMA found to have PBC based on liver histology. It is important to note there have been increased cases of males diagnosed with PBC. It is unclear how many of these males are AMA negative. AMA-negative PBC has been shown to have greater bile duct damage and loss compared with AMA-positive PBC. However whether there are differences in clinical outcomes has not been determined and more studies are needed.