Use of Liver Transplantation for Pure Neurologic Indications in Wilson Disease (P13-11.004)

Abstract

<h3>Objective:</h3> N/A <h3>Background:</h3> Wilson disease (WD) is a disorder of copper metabolism with broad neuropsychiatric and systemic manifestations. Treatment focuses on copper excretion with chelators, and inhibiting copper absorption. Liver transplantation (LT) is recommended in WD patients with hepatic failure; its use for pure neurologic indication remains controversial.¹ In a retrospective cohort study, patients resistant to decoppering agents underwent LT for pure neurologic indications; 8 of 14 had improved Unified Wilson’s Disease Rating Scale (UWDRS) scores of 80%.² A systematic review of LT for neurologic WD showed that newer studies reported better results of neurologic improvement and better survival rates.³ <h3>Design/Methods:</h3> N/A <h3>Results:</h3> A twenty-two-year-old woman developed upper extremity tremor ten months prior to presentation to our hospital and was diagnosed with essential tremor. Over the following months, she progressed: worsening gait and balance, then ballistic movements of the legs and arms. Further work-up showed low serum ceruloplasmin and brain MRI findings consistent with WD. Chelating therapy was initiated with trientine and zinc, seven months after onset. She suffered further deterioration despite therapy, culminating in status dystonicus, as she presented to our hospital. Her choreic-ballistic and dystonic movements are seen in Video 1. She received symptomatic treatment for dystonia and spasticity. Despite relatively normal liver function, she underwent orthotopic liver transplantation. The patient’s pre-transplantation baseline UWDRS score was 157. Post-transplantation, at 6 months (Video 2), her UWDRS score improved to 74, with improvement in her neurologic symptoms. <h3>Conclusions:</h3> We present a patient who underwent liver transplant for pure neurologic indications with subsequent neurologic improvement despite resistance to chelation. Our case adds to growing evidence that supports the use of LT in patients with pure neurologic manifestations of WD. This may be a reasonable therapeutic option when chelation fails to show benefit. Further studies are needed to determine demographic predictors of post-LT improvement. <b>Disclosure:</b> Dr. Marmol has nothing to disclose. Dr. Feldman has nothing to disclose. Dr. Hislop has nothing to disclose. An immediate family member of Dr. Shpiner has received personal compensation for serving as an employee of University of Miami. Dr. Margolesky has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion . The institution of Dr. Margolesky has received research support from NeuroNext.