A 37-year-old woman presents to her primary care physician for evaluation of diffuse itching accompanied by fatigue and progressive yellowing of her skin. She first noticed these symptoms 5 months ago. She does not drink alcohol or use drugs. She denies recent travel and is in a monogamous relationship with her wife of 8 years. Physical examination is significant for scleral icterus and jaundice. Labs are significant for a positive antimitochondrial antibody and an elevated alkaline phosphatase (ALP).
D) Ulcerative colitis
Inflammatory bowel diseases such as ulcerative colitis are associated with primary sclerosing cholangitis (PSC), which is characterized by fibrosis of intrahepatic bile ducts. This patient with a positive anti-mitochondrial antibody is more likely to have primary biliary cholangitis (PBC). PBC is classically seen in middle-aged women without risk factors for liver disease and is associated with increased risk of hepatocellular carcinoma, xanthomas, Sjögren syndrome, Raynaud syndrome, scleroderma, and hypothyroidism. Treatment for PBC includes cholestyramine for pruritus, and ursodeoxycholic acid.
Answer choice A: Hepatocellular carcinoma, is incorrect. This is associated with PBC.
Answer choice B: Raynaud syndrome, is incorrect. This is associated with PBC.
Answer choice C: Sjögren syndrome, is incorrect. This is associated with PBC.
Answer choice E: Xanthomas, is incorrect. This is associated with PBC.
Key Learning Point
Primary biliary cholangitis (PBC) is characterized by a positive anti-mitochondrial antibody and is associated with increased risk of hepatocellular carcinoma, xanthomas, Raynaud syndrome, and Sjögren syndrome. It is not associated with inflammatory bowel diseases such as ulcerative colitis, which is more characteristic of primary sclerosing cholangitis.
