Session Information
Date: Tuesday, June 21, 2016
Session Title: Rare genetic and metabolic diseases
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To evaluate the efficacy of liver transplantation (LT) in patients with severe neurological forms of Wilson disease (WD) who got clinically worse despite a minimum of three months of chelating copper agents.
Background: LT in WD, a rare genetic disease that results in cooper accumulation, is indicated and efficacious in acute liver failure or in advanced cirrhosis. The indication of LT in neurological forms without liver decompensation remains controversial.
Methods: Between 2002 and 2015, we conducted a prospective study of WD patients who underwent a LT due to worsening of their neurological symptoms. Clinical evaluation (modified Ranking and Unified Wilson Disease Rating Scale (UWDRS) scores) was made before LT and at the last follow-up.
Results: 16 patients (9 males) underwent a LT 12.2 +/-8.9 months after the beginning of their neurological worsening which was primary in 10/16 and secondary to bad treatment observance in 6. The mean age at LT was 22.1 +/-8.5 years. Neurological symptoms were heterogeneous and composite with predominance of dystonia in 14 patients and parkinsonism in 9. The CHILD score was A for all patients at the time of transplantation. All patients had cirrhosis after analysis of the native liver. At initial examination, modified Rankin score was above 4 in all patients and mean UWDRS was 90.4 +/-27.4. Four patients with parkinsonism and fixed dystonia, with a mean UWDRS at 111 +/-7.5, deceased from infections in the first 16 months. All were hospitalized in ICU due to acute respiratory distress syndrome in the month before the LT. The mean follow-up of the other 12 patients was 68.3 months (2-250). UWDRS score improved by 80% in 6, by 42% in 4 and by 23% in 2 who were transplanted 3 months earlier. 2/3 had a modified Rankin score below 2.
Conclusions: These data from a large series of patients, suggest that LT is effective in WD patients presenting worsening of their neurological symptoms despite medical treatment, even in the absence of liver failure. Clinical improvement is expected in more than 60% of patients after a mean follow up of five years. The mortality rate stays high (25%), due to repetitive sepsis and extremely severe neurological symptoms. More predictive factors are necessary to determine the right time for transplantation.
To cite this abstract in AMA style:
A. Poujois, R. Sobesky, W. Meissner, E. de Medeiros, C. Vanlemmens, A.S. Brunet, E. Broussolle, J.C. Duclos-Vallée, F. Woimant. The French experience of liver transplantation for severe neurological forms of Wilson disease [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/the-french-experience-of-liver-transplantation-for-severe-neurological-forms-of-wilson-disease/. Accessed July 3, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/the-french-experience-of-liver-transplantation-for-severe-neurological-forms-of-wilson-disease/