Acute Liver Failure due to Wilson's Disease and Rescue Therapy with Plasma Exchange: A Case Report and Literature Review.

Abstract

Introduction: Wilson's disease (WD) is a rare genetic condition characterized by impaired copper metabolism and can rarely present as acute liver failure with an associated high mortality rate. Treatment often requires liver transplantation, and few rescue treatments have been shown to be effective by randomized trials. This is a case report and scoping literature review on plasmapheresis in acute liver failure due to WD.

Case presentation: We report a case of a previously undiagnosed 32-year-old female who presented with acute liver failure due to WD. Initial severity indices (MELD = 31 and RWPI - Revised Wilson Prognostic Index = 14) warranted liver transplant referral; however, no facilities were available. The patient was managed by two sessions of plasmapheresis with plasma exchange with persistent improvement in MELD score over 1 week. Subsequent ongoing chelation therapy resulted in a total reversal of clinical liver disease over 2 years. Literature review resulted in 74 patients reported to have been treated with plasmapheresis for WD and acute liver failure. Of these, 40% survived without transplant. Out of the total patients reported, 54 patients had an available NWI score, with 46 patients having a high-risk score of ≥11 (85%) and 8 patients had a score <11 (15%). Of the 46 patients with a score ≥11, 21 (46%) recovered without liver transplantation, 16 (35%) underwent liver transplantation, 8 (17%) died of liver failure, and 1 (∼2%) died of sepsis. Of the 8 patients with a score of <11, 4 (50%) recovered without a liver transplantation, and 4 (50%) underwent transplantation.

Conclusion: The outcomes observed in the literature and the favorable outcome of our patient suggest an emphasis on the use of urgent plasmapheresis with plasma exchange as an initial intervention for acute liver failure in WD, although further randomized controlled trials are needed for determining the optimal dose and duration of treatment.