Wilson's Disease: Sensitivity and Specificity

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 sensitivity and specificity of findings for Wilson's Disease are listed below. See the left navigation bar to change the display.

Sensitive and Specific Findings

Ceruloplasmin, low serum levels

88%

99%

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

97%

95%

quantitative, >75mcg/g tissue.

Study: Clin Gastroenterol Hepatol. 2005 Aug;3(8):811-8. PMID 16234011

Specific Findings

Liver Copper Content
Duplicate

83%

99%

(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

76%

93%

Study: J Hepatol. 2007 Aug;47(2):270-6. PMID: 17449133

Sensitive Findings

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

Poorly Diagnostic Findings

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.