A clinical assessment of Wilson disease in patients with concurrent liver disease.
OBJECTIVE
To investigate variations in clinical epidemiology of Wilson disease in patients with concurrent liver disease and the effect of coexisting disease on current diagnostic algorithms.


BACKGROUND
Wilson disease is a rare disorder and few studies exist on diagnosis and natural history. Currently available tools have limited efficacy in complex patients, and the presence of coexisting diseases may further limit their use. More in-depth analyses of Wilson disease among complex patients with concurrent diseases will help improve algorithms for earlier diagnosis and treatment.


METHODS
A retrospective cohort study using data from a large tertiary-care center to carry out a clinical assessment of Wilson disease among patients with coexisting liver disease.


RESULTS
Forty-two Wilson disease patients were identified; 9 had comorbid liver diseases. The average age of diagnosis was significantly older in patients with concurrent liver disease compared with those without underlying disease (49.1 y vs. 26.8 y, P<0.0001). Patients with concurrent liver disease had more evidence of cirrhosis at presentation (9/9, 100% vs. 15/33, 45.5%), and showed greater mortality (4/8, 50% vs. 4/29, 13.8%, P=0.0222). Without mutation analysis data, a definitive diagnosis of Wilson disease using Leipzig criteria was made in 44% of patients with concurrent liver diseases.


CONCLUSIONS
Patients with concurrent liver diseases were diagnosed with Wilson disease at significantly older ages, presented with more liver cirrhosis, and showed greater mortality. Mutation analysis is crucial for definitive diagnosis among complex cohorts and those with intermediate Leipzig scores.
Wong
Robert J
RJ
Department of Medicine, California Pacific Medical Center, San Francisco, CA, USA. RobertWong123@gmail.com
Gish
Robert
R
Schilsky
Michael
M
Frenette
Catherine
C
D000293:Adolescent; D000328:Adult; D000465:Algorithms; D002648:Child; D015331:Cohort Studies; D003300:Copper / Q000032:analysis; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000503:physiopathology*; D006801:Humans; D008099:Liver / Q000737:chemistry; D008107:Liver Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D016019:Survival Analysis; D055815:Young Adult
D003300:Copper