A 43-year-old woman comes to the office due to intense generalized pruritus for the past 4 months. She has used several over-the-counter products, including emollients and antihistamines, but did not get any relief and "finally decided to see a doctor." The patient has also felt extremely fatigued and frequently takes naps during the daytime. She feels refreshed after waking up and has no dyspnea or nighttime sleep problems. The patient does not use tobacco or alcohol. Vital signs are normal. Physical examination is notable for skin excoriations and mild hepatomegaly. Eye examination findings are shown in the exhibit. Laboratory testing shows total bilirubin is 1.6 mg/dL and antimitochondrial antibody is positive. With her disease progression, this patient is at greatest risk for developing which of the following conditions?

Question

A 43-year-old woman comes to the office due to intense generalized pruritus for the past 4 months.  She has used several over-the-counter products, including emollients and antihistamines, but did not get any relief and "finally decided to see a doctor."  The patient has also felt extremely fatigued and frequently takes naps during the daytime.  She feels refreshed after waking up and has no dyspnea or nighttime sleep problems.  The patient does not use tobacco or alcohol.  Vital signs are normal.  Physical examination is notable for skin excoriations and mild hepatomegaly.  Eye examination findings are shown in the exhibit.  Laboratory testing shows total bilirubin is 1.6 mg/dL and antimitochondrial antibody is positive.  With her disease progression, this patient is at greatest risk for developing which of the following conditions?

Quizplus · Accepted Answer

11ec25c8_d402_251a_bc81_cf0b8e477bf4_MD0003_00 This patient has typical features of primary biliary cholangitis (PBC [previously called primary biliary cirrhosis]), including pruritus, fatigue, hepatomegaly, elevated serum bilirubin, and a positive antimitochondrial antibody assay. PBC is a progressive autoimmune disease characterized by destruction of the intrahepatic bile ducts, leading to bile stasis and cirrhosis. It is commonly associated with severe hyperlipidemia, which may manifest with xanthelasmas (soft yellow plaques on the eyelids) due to accumulation of lipid-filled macrophages in the dermis. This hyperlipidemia is characterized by elevation of HDL out of proportion to LDL and does not appear to significantly increase the risk for atherosclerosis. Other complications of PBC include malabsorption with associated nutrient deficiencies and hepatocellular carcinoma. In addition, patients may develop metabolic bone disease manifesting as osteoporosis or osteomalacia. Osteomalacia (decreased bone mineralization) is associated with vitamin D deficiency and possibly fat malabsorption. (Choices A and C) Despite its name, PBC is not associated with ascending cholangitis, which is a possible complication of extrahepatic biliary obstruction (eg, common bile duct stone) and typically presents acutely with Charcot triad (eg, fever, jaundice, right upper quadrant pain). Ascending cholangitis is associated with primary sclerosing cholangitis (PSC), an inflammatory disorder of the intrahepatic and extrahepatic biliary tree associated with inflammatory bowel disease. Patients with ulcerative colitis and PSC are at increased risk for colorectal cancer. Unlike PBC, PSC is not associated with antimitochondrial antibodies or xanthelasmas. (Choice B) Bile salt diarrhea occurs in patients with terminal ileal disease (eg, ileal resection, Crohn ileitis). Impaired bile absorption in the ileum leads to increased bile salts in the colon, resulting in diarrhea (cholerheic diarrhea). (Choice D) Alpha-1 antitrypsin deficiency typically causes liver cirrhosis and early-onset emphysema due to excessive elastase activity. The absence of pulmonary symptoms/signs makes emphysema unlikely. In addition, xanthelasmas and positive antimitochondrial antibody are not characteristic of alpha-1 antitrypsin deficiency. (Choice F) Restrictive cardiomyopathy and liver cirrhosis may be seen in patients with hemochromatosis due to excessive iron deposition in tissues. Other findings typically include skin hyperpigmentation and diabetes mellitus ("bronze diabetes"). Educational objective: Primary biliary cholangitis is a progressive autoimmune disease characterized by destruction of intrahepatic bile ducts. It can be associated with severe hyperlipidemia, leading to xanthelasmas. Other complications include malabsorption, metabolic bone disease (eg, osteoporosis, osteomalacia), and hepatocellular carcinoma. References: Primary biliary cirrhosis. (http://www.ncbi.nlm.nih.gov/pubmed/26364546) Primary biliary cirrhosis: Clinical and laboratory criteria for its diagnosis. (http://www.ncbi.nlm.nih.gov/pubmed/26167070)

A 43-Year-Old Woman Comes to the Office Due to Intense