1Department of Neurology, Rothschild Foundation Hospital, Paris, France.
2National Reference Center for Wilson's Disease and Other Copper-Related Rare Diseases, Rothschild Foundation Hospital, Paris, France.
3Centre Hépato-Biliaire, AP-HP, DHU Hepatinov, INSERM UMR-S 1193, Hôpital Paul Brousse, Villejuif, France.
4National Reference Center for Wilson's Disease and Other Copper-Related Rare Diseases, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Bron, France.
5Department of Hepatologie-Gastroenterologie, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France.
6Service d'explorations fonctionnelles digestives, CHU Lyon, Lyon, France.
7Service de Neurologie HFME-GHE, Bron Cedex, France.
8Service de neurologie et pathologies du mouvement, INSERM UMR, CHU Lille, Lille, France.
9Service d'Hépatologie et soins intensifs digestifs, CHU Besançon, Hôpital Jean Minjoz, Besançon, France.
10Service de Neurologie, Neurology Department, CHU Toulouse, Hôpital Purpan, Toulouse, France.
11Service d'Hépatologie-Gastroentérologie, Hôpital Haut-Lévêque, CHU Bordeaux, Pessac & INSERM U1312, Université de Bordeaux, Bordeaux, France.
12Service des maladies du foie, CHU Pontchaillou, Rennes Cedex 9, France.
13Service de Neurologie, Neurology Department, CHU Marseille, Hôpital de la Timone, Marseille, France.
14Département de Génétique, Hôpital Robert Debré AP-HP, Paris, France.
15Laboratoire de Toxicologie Biologique, Hôpital Lariboisière AP-HP, Paris, France.
Background: Wilson's disease (WD) is usually diagnosed in children and young adults; limited data exist on late-onset forms.
Objective: The aim was to characterize the clinical and paraclinical presentations, therapeutic management, and outcomes in patients with late-onset WD.
Methods: Patients diagnosed with WD after age 40 years were identified from the French Wilson's Disease Registry (FWDR). Clinical, laboratory, and imaging findings and treatment were reported at diagnosis and last follow-up.
Results: Forty-five patients were identified (median age: 49, range: 40-64) and placed in three groups according to their clinical presentation: neurological (n = 20, median diagnostic delay: 20 months), hepatic (n = 13, diagnostic delay: 12 months), and family screening (n = 12), all confirmed genetically. Six neurological patients had an atypical presentation (1 torticollis, 2 writer's cramps, 2 functional movement disorders, and 1 isolated dysarthria), without T2/fluid-attenuated inversion recovery brain magnetic resonance imaging (MRI) hyperintensities; 5 of 6 had no Kayser-Fleischer ring (KFR); 5 of 6 had liver involvement. In the neurological group, 84% of patients improved clinically, and 1 developed copper deficiency. In the hepatic group, 77% had cirrhosis; 6 patients required liver transplantation. In the screened group, 43% had mild liver involvement; 3 were not treated and remained stable; 24-h urinary copper excretion was normal in 33% of patients at diagnosis.