Abstract

A 52-year-old white woman with a presumptive diagnosis of cirrhosis attributed to nonalcoholic steatohepatitis was referred for a liver transplant consultation. The patient reported increased abdominal discomfort, swelling, and lower extremity edema beginning 7 years earlier, as well as intermittent nausea, weakness, and confusion which had increased in frequency during the previous year. While undergoing a cholestectomy for gallstones 2 years previously, the patient was noted to have ascites and a cirrhotic-appearing liver. Results of routine laboratory tests and an abdominal ultrasound performed at that time were consistent with cirrhosis. The patient, a married housewife with 1 adult son, had a physical appearance that suggested chronic illness but was in no acute distress. She denied any history of drug or alcohol use and reported never having received a blood transfusion. She had no history of childhood liver disease and was unaware of any family history of gastrointestinal malignancy or liver disease. The patient did report, however, that 2 of her 7 siblings died from unknown causes as infants, her father died while in a coma of unknown etiology, her mother died from diabetic complications, and a third sibling died of a gynecologic cancer. The patient’s medical history was remarkable for obesity, gastroesophageal reflux disease, recurrent urinary tract infections, and arthritis. Physical examination was unremarkable, with the exception of mildly icteric sclera, spider nevi on the anterior chest wall, and bilateral lower extremity edema. Moderately decreased breath sounds in her lower left lung were also noted. Chest x-rays and spirometry were unremarkable. Laboratory data were consistent with end-stage liver disease and also revealed mild anemia as well as thrombocytopenia and chronic kidney disease. Although at the time of her referral to our institution the patient had a presumptive diagnosis of cirrhosis related to nonalcoholic steatohepatitis, we investigated other causes for her …

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