title: Response to different therapeutic approaches in Wilson disease. A long-term follow up study.
abstract: OBJECTIVE
  There are certain areas of uncertainty regarding the best therapeutic approach in patients diagnosed with Wilson Disease (WD). Our aim was to assess treatment response to different therapies in a cohort of WD patients followed in a single center.
  
  
  METHODS
  This is an observational, descriptive study in which clinical, laboratory and imaging data are reviewed in a series of 20 WD patients with a median follow-up of 14 years. Type of presentation, treatment used, biochemical and copper homeostasis parameters were elicited.
  
  
  RESULTS
  Median age at diagnosis was 22 years. The most frequent form of presentation was hepatic (n = 10, 50%; mean age: 21.5 years), followed by neurological (25%; mean age: 34.5 years) and mixed (15%). The initial treatment in both symptomatic and asymptomatic patients at diagnosis was d-penicillamine in 90% and Zinc (Zn) in 10%, respectively. Patients who were maintained on d-penicillamine for the whole period had complete biochemical normalization (baseline ALT: 220 IU/l; last follow up 38 IU/l). In contrast, patients in whom d-penicillamine was switched to Zn, irrespective of the cause, did not show a complete biochemical remission (baseline ALT: 100 IU/l vs. 66 IU/l at last follow-up).
  
  
  CONCLUSIONS
  Treatment was found to be effective in most cases regardless of the drug used. However, side effects were common in those treated with d-penicillamine agents, and required switching to zinc. Therapy with zinc was well tolerated and appeared to have a good efficacy. However, in 33%, a complete normalization of liver enzymes was never reached.
authors.affiliation: Hepatology-Liver Transplantation Unit, Digestive Medicine Service, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Rodríguez
authors.forename: Juan
authors.initials: J
authors.lastname: Burguera
authors.forename: Marina
authors.initials: M
authors.lastname: Berenguer
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D002614:Chelating Agents / Q000009:adverse effects / Q000627:therapeutic use*; D002648:Child; D003300:Copper / Q000097:blood*; D057915:Drug Substitution; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010396:Penicillamine / Q000009:adverse effects / Q000627:therapeutic use*; D012189:Retrospective Studies; D013030:Spain; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult; D015032:Zinc / Q000009:adverse effects / Q000627:therapeutic use*
chemical_list: D015415:Biomarkers; D002614:Chelating Agents; D003300:Copper; D010396:Penicillamine; D015032:Zinc