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.

Good Positive and Negative Likelihood Ratios

Finding	+LR	-LR	Comments, Study
Liver Copper Content Duplicate	19.4	0	quantitative, >75mcg/g tissue. Study: Clin Gastroenterol Hepatol. 2005 Aug;3(8):811-8. PMID 16234011
Ceruloplasmin, low serum levels	88	0.1	Sensitivity is from the Gut study, which is a retrospective chart review. Specificity is from the J Hepatol study, which was screening an asymptomatic population. Cutoff <20 mg/dl. (Note that the PPV in that study was 6%.) Study: J Hepatol. 1997 Aug;27(2):358-62. PMID: 9288611 Gut. 2007 Jan;56(1):115-20. PMID: 16709660
Liver Copper Content Duplicate	83	0.2	(quantitative, not by staining) Cutoff >250mcg/g tissue. Note that other studies (see the Gut study) reported sensitivity ~ 92%. Study: Clin Gastroenterol Hepatol. 2005 Aug;3(8):811-8. PMID 16234011
Urine Copper after Penicillamine Challenge	10.9	0.3	Study: J Hepatol. 2007 Aug;47(2):270-6. PMID: 17449133

Poorly Diagnostic Findings

Finding	+LR	-LR	Comments, Study
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

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.