title: Wilson disease in 71 patients followed for over two decades in a tertiary center in Saudi Arabia: a retrospective review.
abstract: OBJECTIVE
  Wilson disease (WD) is a rare autosomal recessive disease. Our objective was to describe the diverse patterns, therapies, and outcomes of this disease.
  
  
  METHODS
  A retrospective study over two decades on WD patients in a tertiary care center in Saudi Arabia.
  
  
  METHODS
  Clinical and laboratory findings of 71 patients with WD were retrieved from their charts, referral notes and our hospital electronic records and were analyzed.
  
  
  RESULTS
  The mean age and standard deviation was 16.8 (10.7) years and 56.5% were males. The main manifestations of WD were hepatic, neurological, and mixed in 39 (54.9%), 12 (16.9%), and 20 (28.2%) patients, respectively, and 11 (15.5%) were asymptomatic cases detected by family screening. A family history of WD was positive in 41 (57.7%) patients, and consanguinity of parents was found in 26 (36.6%) patients. The mean (SD) follow-up period was 92.2 (72.9) (range, 1-320) months. Ten (14.1%) patients died during follow up, while 45 (63.4%) and 16 (22.5%) were still on or lost from follow-up, respectively. The mean (SD) age at the end of follow-up was 25.3 (12) (range, 4-62) years. Hepatoma was discovered in 5 (7.0%) patients. Penicillamine therapy was used by 58 (81.7%) patients, while zinc and trientine were given to 32 (45.1%) and 11 (15.5%) patients, respectively. Sixteen (22.5%) patients underwent liver transplantation and one died (1.4%) on the waiting list. The liver condition remained stable or improved in 35 (49.3%), and the neurological status showed improvement in 11 (34.4%) of the 32 patients who had neurological involvement.
  
  
  CONCLUSIONS
  This is the biggest cohort to be reported from the Middle East. WD presentation and outcome of WD are very diverse, and its diagnosis still depends on clinical, laboratory, and radiological evidence of abnormal copper metabolism. WD should be considered in patients of any age with obscure hepatic and/or neurological abnormalities.
authors: Section of Gastroenterology, Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Mohammed
authors: M
authors: Al Fadda
authors: Mohammed
authors: M
authors: Al Quaiz
authors: Hamad
authors: H
authors: Al Ashgar
authors: Khalid
authors: K
authors: Al Kahtani
authors: Ahmed
authors: A
authors: Helmy
authors: Ali
authors: A
authors: Al Benmousa
authors: Maheeba
authors: M
authors: Abdulla
authors: Musthafa
authors: M
authors: Peedikayil
mesh_terms: D000293:Adolescent; D000328:Adult; D002614:Chelating Agents / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D006801:Humans; D008111:Liver Function Tests; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012189:Retrospective Studies; D012529:Saudi Arabia / Q000453:epidemiology; D062606:Tertiary Care Centers; D013997:Time Factors; D055815:Young Adult
chemical_list: D002614:Chelating Agents
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