Case Presentation: A 20 year old woman with history of depression on SSRI presented with jaundice, generalized fatigue, and malaise for four days. She had associated progressive nausea, nonbloody, nonbilious emesis and intermittent diarrhea. Her parents noted that she was acutely confused. Parents denied fevers, chills, unusual foods, drug or alcohol use, medication changes, insect exposure, and family or personal history of autoimmune disorders.
On exam, the patient had grade two hepatic encephalopathy. She had jaundice with scleral icterus. No Kayser-Fleischer rings were seen on ophthalmologic exam. She had labored respiratory effort on exertion, but lungs were clear to auscultation. Abdomen was nontender and nondistended without appreciable fluid wave.
CBC was remarkable for a leukocytosis and a Coombs-negative macrocytic hemolytic anemia. Spherocytes were noted on peripheral smear. CMP was significant for a conjugated hyperbilirubinemia to 34.4, with relatively low AST/ALT and normal alkaline phosphatase. Coagulopathy was present. Urine drug screen, hepatitis panel and infectious work-up were negative, including tick-borne illness. Iron studies did not indicate iron overload. ANA, anti-LKM, AMA and ASMA were negative. A1AT was elevated. Ceruloplasmin was low. US noted parenchymal disease with patent vasculature and moderate ascites. Urgent paracentesis was performed, which revealed elevated bilirubin. Twenty-four hour urine copper was >3900 mcg/D.
Liver biopsy revealed stage four fibrosis with Mallory-Denk bodies, extensive ballooning degeneration, and macrosteatosis. With her clinical presentation and pattern of liver injury on laboratory evaluation, along with pathology findings, a diagnosis of Wilson’s Disease was made. The diagnosis was confirmed with copper stain and copper quantification study.
Within twenty-fours of presentation, the patient rapidly declined, requiring intubation. Her bilirubin steadily climbed despite maximum medical therapy. Due to her abysmal prognosis, she was emergently evaluated and listed for liver transplantation. Approximately sixty hours after presentation she received an orthotopic liver transplant. After transplant, the patient did well and was discharged.
Discussion: Wilson’s Disease is a rare etiology of acute liver failure. Identifying the disease is critical as treatment leads to a good prognosis. The diagnosis is made on clinical and laboratory findings, with particular emphasis on Coombs-negative hemolytic anemia from metal overload and elevated total bilirubin with unusually low alkaline phosphatase. The presence of Kayser-Fleischer rings are highly suggestive of the disease. While ceruloplasmin is often included in the diagnostic work-up of the acute liver failure patient, it is important to remember that ceruloplasmin is an acute phase reactant with a low positive predictive value.
Conclusions: Common causes of acute liver failure in a young person include drug exposure, toxin exposure, viral illness, and autoimmune conditions. However, other more rare etiologies play an equally important role in the differential diagnosis of acute liver failure and deserve consideration.
To cite this abstract:McCord, DD. MAKING SENSE OF A [CU]LPRIT. Abstract published at Hospital Medicine 2019, March 24-27, National Harbor, Md. Abstract 838. https://www.shmabstracts.com/abstract/making-sense-of-a-culprit/. Accessed December 5, 2019.