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 worse at night secondary to bile salts deposited in the skin 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) 90-95% sensitivity > 99% specificity + anti-smooth muscle antibody (ASMA) in 50% of patients + anti-nuclear antibody (ANA) in 50% of patients ↑ IgM ↑ cholesterol Invasive studies liver biopsy indication in AMA-negative patients in whom clinical suspicion is strong for PBC findings nonsuppurative cholangitis and destruction of interlobular biliary ducts degenerating bile duct with lymphoid structures and granulomas 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 all patients cholestyramine indications pruritus Surgical liver transplantation indications decompensated liver disease severe pruritus refractory to other therapies Complications Portal hypertension Cirrhosis Osteoporosis monitor with DEXA scan supplement with vitamin D3
QUESTIONS 1 of 4 1 2 3 4 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.GI.17.4720) A 47-year-old Caucasian woman presents with a 2-month history of general fatigue, slight jaundice, and mild itching. She has also noticed that her urine has been darker and stools have been lighter in color recently. She denies any fevers, chills, or alcohol use. She has no significant past medical or surgical history and is not taking any medications. She recalls that her mother saw a doctor for eye and mouth dryness but cannot remember the name of her diagnosis. She denies any illicit drug use, recent change in diet, or recent travel. On physical exam, her abdomen is soft and non-distended. There is right upper quadrant tenderness to deep palpation but a negative Murphy’s sign. Her laboratory findings were significant for increased liver enzymes, direct bilirubin, and alkaline phosphatase with normal levels of iron and ceruloplasmin. Ultrasound revealed no stones in the gallbladder or common bile duct and endoscopic retrograde cholangiopancreatography (ERCP) revealed normal extrahepatic biliary ducts. Which of the following findings is most likely to also be found in this patient? QID: 108499 Type & Select Correct Answer 1 Anti-neutrophilic cytoplasmic antibodies (ANCA) 18% (48/268) 2 Rheumatoid factor 6% (15/268) 3 Anti-gliadin antibody 4% (12/268) 4 Anti-centromere antibody 13% (34/268) 5 Anti-mitochondrial antibody 56% (151/268) M 2 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 5 Review Tested Concept Review Full Topic Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK