title: Wilson's disease: long-term follow-up of a cohort of 24 patients treated with D-penicillamine.
abstract: OBJECTIVE
  Detailed data on long-term effectiveness of various drug therapies in Wilson's disease (WD) are lacking. Therefore, we retrospectively reviewed our patient cohort treated with D-penicillamine.
  
  
  METHODS
  This study reports on the clinical presentation, the diagnostic evaluation, and the disease course in 24 WD patients treated long-term (15+/-12 years, between 1969 and 2009) with D-penicillamine.
  
  
  RESULTS
  The overall survival in our cohort was 91.6%. Twenty-two of 24 patients had liver disease at presentation, 17 of 24 patients (71%) had cirrhosis, 11 of whom had complications of cirrhosis. Six of 11 of these patients showed hepatological improvement (five of six) or stabilization (one of six), three of 11 were transplanted, one of 11 died, one of 11 discontinued follow-up. In the six of 17 cirrhotic patients without complications, improvement (four of six) or stabilization (two of six) occurred. Of all other patients (seven of 24), five of seven showed improvement (three of five) or stabilization (two of five), hepatological deterioration occurred only in one patient due to poor therapy compliance and one of seven discontinued follow-up. Neuropsychiatric symptoms were present in 13 of 24 at presentation and resolved in one of 13, decreased in seven of 13, stabilized in four of 13 and worsened in one of 13 patients (due to poor compliance). In general, we observed a favorable hepatological and neurological evolution with D-penicillamine.
  
  
  CONCLUSIONS
  Despite the presence of liver disease or neuropsychiatric symptoms at baseline in all but one of the patients, we report beneficial results on liver and neurological disease after very long-term treatment with D-penicillamine, thereby adding to its reputation as 'first-line' therapy in WD.
authors.affiliation: Department of Internal Medicine, University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium. klaartje_lowette@yahoo.com
authors.forename: Klaartje F
authors.initials: KF
authors.lastname: Lowette
authors.forename: Koen
authors.initials: K
authors.lastname: Desmet
authors.forename: Peter
authors.initials: P
authors.lastname: Witters
authors.forename: Wim
authors.initials: W
authors.lastname: Laleman
authors.forename: Chris
authors.initials: C
authors.lastname: Verslype
authors.forename: Frederik
authors.initials: F
authors.lastname: Nevens
authors.forename: Johan
authors.initials: J
authors.lastname: Fevery
authors.forename: David M
authors.initials: DM
authors.lastname: Cassiman
mesh_terms: D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D006528:Carcinoma, Hepatocellular / Q000150:complications; D002614:Chelating Agents / Q000008:administration & dosage* / Q000009:adverse effects; D002648:Child; D015331:Cohort Studies; D003131:Combined Modality Therapy; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D008107:Liver Diseases / Q000188:drug therapy / Q000209:etiology / Q000601:surgery; D008113:Liver Neoplasms / Q000150:complications; D016031:Liver Transplantation; D008297:Male; D009422:Nervous System Diseases / Q000188:drug therapy / Q000209:etiology; D010349:Patient Compliance; D010396:Penicillamine / Q000008:administration & dosage* / Q000009:adverse effects; D012189:Retrospective Studies; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D002614:Chelating Agents; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D010396:Penicillamine