Snapshot A 40-year-old woman presents to the urgent care for excessive fatigue and jaundice. She reports that she had felt fatigued for months. Recently, she noticed that her skin is more orange. On physical exam, she is noted to have scleral icterus and jaundice. Laboratory results reveal transaminitis. Anti-smooth muscle antibodies were negative, but a liver biopsy showed granulomatous inflammation of the bile ducts. Introduction Overview primary biliary cholangitis (PBC) is a granulomatous autoimmune condition resulting in destruction of the interlobular bile ducts also known as primary biliary cirrhosis Epidemiology demographics female > male middle-aged (>40 years of age) risk factors family history Pathogenesis autoimmune attack on anti-mitochondrial antigens on biliary epithelial cells autoantibodies anti-mitochondrial antibodies (AMAs) Associated conditions other autoimmune diseases CREST syndrome rheumatoid arthritis celiac disease Hashimoto thyroiditis scleroderma Presentation Symptoms common symptoms fatigue pruritus login to view 2 more bullets dark urine light-colored stool right upper quadrant pain Physical exam inspection jaundice hepatosplenomegaly may have xanthomas or xanthelasma Imaging Ultrasound indication to assess for hepatobiliary disease views right upper quadrant findings cirrhosis, including increased nodularity, atrophy, or hypertrophy distinguish between intra and extrahepatic biliary obstruction ERCP (endoscopic retrograde cholangiopancreatography) indication ultrasound is inconclusive, or concern for gallstones findings extrahepatic ducts appear grossly normal contrast to “string of beads” in primary sclerosing cholangitis Studies Serum labs liver function tests showing cholestasis pattern ↑ direct bilirubin ↑ alkaline phosphatase autoantibodies + anti-mitochondrial antibody (AMA) login to view 2 more bullets + anti-smooth muscle antibody (ASMA) login to view 1 more bullet + anti-nuclear antibody (ANA) login to view 1 more bullet ↑ IgM ↑ cholesterol Invasive studies liver biopsy indication login to view 1 more bullet findings login to view 2 more bullets Diagnosis with 2 or more of alkaline phosphatase > 1.5x upper limit of normal for 6 months or more + AMA in serum liver biopsy showing signs of PBC Differential Hemochromatosis key distinguishing factor triad of cirrhosis, diabetes, and skin bronze pigmentation Wilson disease key distinguishing factors patients typically present before age 40 cirrhosis, neurologic disease, psychiatric disease, and Kayser-Fleischer rings in the eyes Treatment Lifestyle avoidance of alcohol vaccination against hepatitis A and B Medical ursodeoxycholic acid indications login to view 1 more bullet cholestyramine indications login to view 1 more bullet Surgical liver transplantation indications login to view 2 more bullets Complications Portal hypertension Cirrhosis Osteoporosis monitor with DEXA scan supplement with vitamin D3