A 48-year-old woman comes to the office after abnormal serum liver chemistry results were found during a life insurance medical evaluation. She has no chronic medical issues and takes no medications. The patient says she has felt excessively tired lately, which she attributes to menopause. She has had no hot flashes, changes in sleep pattern, anorexia, or weight loss. The patient does not use tobacco, alcohol, or illicit drugs. She works in an accounting firm. Her father died at age 62 from an unknown liver disease. Vital signs are within normal limits. BMI is 30 kg/m². She has small bilateral xanthelasmata but no scleral icterus. The thyroid is not enlarged. Cardiopulmonary examination is unremarkable. The abdomen is soft and nontender with no hepatosplenomegaly. She has no skin rash. Current laboratory results are as follows: Abdominal ultrasonography reveals a normal-sized liver and no gallstones. Intrahepatic and common bile ducts are normal.
Which of the following is most likely to help establish the diagnosis in this patient?

Question

A 48-year-old woman comes to the office after abnormal serum liver chemistry results were found during a life insurance medical evaluation. She has no chronic medical issues and takes no medications. The patient says she has felt excessively tired lately, which she attributes to menopause. She has had no hot flashes, changes in sleep pattern, anorexia, or weight loss. The patient does not use tobacco, alcohol, or illicit drugs. She works in an accounting firm. Her father died at age 62 from an unknown liver disease. Vital signs are within normal limits. BMI is 30 kg/m². She has small bilateral xanthelasmata but no scleral icterus. The thyroid is not enlarged. Cardiopulmonary examination is unremarkable. The abdomen is soft and nontender with no hepatosplenomegaly. She has no skin rash. Current laboratory results are as follows:

Abdominal ultrasonography reveals a normal-sized liver and no gallstones. Intrahepatic and common bile ducts are normal.
Which of the following is most likely to help establish the diagnosis in this patient?

Quizplus · Accepted Answer

Explanation: 11ec2b69_bf4d_0947_8f63_c55c4dd6e738_MD0005_00 Primary biliary cholangitis (PBC, formerly known as primary biliary cirrhosis) is a progressive autoimmune disease characterized by fibrosis and obliteration of the intrahepatic bile ducts, potentially leading to cirrhosis. PBC is most common in women of Northern European heritage with typical onset at age 30-65, with the risk increased in family members. Patients are often asymptomatic at the time of diagnosis, with abnormalities noted on liver function tests done for other reasons. Fatigue and pruritus are the most common symptoms, but patients can also develop jaundice, steatorrhea, hyperpigmentation, and hyperlipidemia with xanthelasma (cholesterol-rich skin deposits, usually around the eyelids). Patients may also have other autoimmune disorders (eg, CREST syndrome, type 1 diabetes mellitus). xanthelasma PBC is characterized by significant elevations in alkaline phosphatase (reflecting cholestasis); mild elevations in bilirubin and hepatic transaminases (eg, aspartate aminotransferase) may also be seen. Antimitochondrial antibodies are highly sensitive (~95%) and specific for PBC. Liver biopsy can confirm the diagnosis and provide staging information, but is not necessary in patients with typical clinical and laboratory findings. (Choice A) Alpha-1 antitrypsin deficiency typically causes cirrhosis (with significant elevations in hepatic transaminases) and emphysema. This patient has no pulmonary manifestations, and the xanthelasma and predominant elevation in alkaline phosphatase are more consistent with PBC. (Choice B) Anti-smooth-muscle antibodies are associated with type 1 autoimmune hepatitis, which typically causes elevation of hepatic transaminases. Alkaline phosphatase is usually normal or only mildly elevated. (Choice D) Wilson disease is caused by abnormal transport and metabolism of copper, and leads to low serum ceruloplasmin levels. It typically presents before age 35 with hepatomegaly and elevation in transaminases, and patients frequently have neuropsychiatric symptoms (eg, depression, movement disorders). (Choice E) Serum ferritin and transferrin saturation are useful in evaluation of hemochromatosis, which is a common cause of chronic liver disease. However, hemochromatosis is more common in men, causes predominant elevations in transaminases, and often has additional findings including hyperpigmentation, diabetes mellitus, arthropathy, and cardiomyopathy. Educational objective: Primary biliary cholangitis is a progressive autoimmune disease characterized by fibrosis and obliteration of the intrahepatic bile ducts. Fatigue and pruritus are the most common symptoms. Most patients have significant elevations in alkaline phosphatase, and antimitochondrial antibodies are highly sensitive and specific. References: The diagnosis of primary biliary cholangitis. (http://www.ncbi.nlm.nih.gov/pubmed/24424173)

A 48-Year-Old Woman Comes to the Office After Abnormal Serum