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Wilson's Disease: Likelihood Ratios

Introduction: aka hepatolenticular degeneration

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Tags: Congenital Hepatic Metabolic Tag this Diagnosis.

Prevalence

Population / Calculator	Prevalence	Comments / Study / Link
Asymptomatic individuals	0.03%	J Hepatol. 1997 Aug;27(2):358-62. PMID: 9288611
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The likelihood ratios of findings for Wilson's Disease are listed below. See the left navigation bar to change the display.

Pre-Test Probability (Prevalence): %.	Post-Test Probability (Predictive Value): %.	Switch to display mode.
Note that calculating probabilities from more than one** finding is inherently inaccurate because findings are not independent. (For example, using two positive findings that share a common pathogenesis is likely to overestimate the true probability.)

Poorly Diagnostic Findings
Finding	Result	+LR	-LR
[ + ] Elevated Urine Copper		Sensitivity = 87%
>1.6 umol/24 hr. Specificity not assessed. Study: Gut. 2007 Jan;56(1):115-20. PMID: 16709660
[ + ] Serum Copper		Sensitivity = 87%
non-ceruloplasmin-bound. Cutoff >25ug/dl. Study: Gut. 2007 Jan;56(1):115-20. PMID: 16709660
[ + ] Kayser-Fleischer Ring		Sensitivity = 66%
specificity not assessed, but according to UpToDate some patients with cholestatic liver disease have this finding. Also according to UpToDate, sensitivity = 90% in patients with neurological Wilson's. Study: Gut. 2007 Jan;56(1):115-20. PMID: 16709660

Findings With Unspecified Accuracy
Finding	Result	+LR	-LR
[ + ] Genetic Testing		No accuracy specified.
Autosomal recessive. Note that heterozygotes may have abnormal serum ceruloplasmin. Screening is possible only in populations with a small set of mutations (or in a family if the mutation has been identified). Gene is ATP7, an ATP-dependent Cu transporter. Study: no study specified.