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Wilson's Disease: Sensitivity and Specificity

Introduction: aka hepatolenticular degeneration

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Tags: Congenital Hepatic Metabolic Tag this Diagnosis.

Prevalence

Population / CalculatorPrevalence 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

Finding SensitivitySpecificity Comments, Study
Ceruloplasmin, low serum levels Edit 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 Edit
97%95%

quantitative, >75mcg/g tissue.

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

Specific Findings

Finding SensitivitySpecificity Comments, Study
Liver Copper Content
Duplicate Edit
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 Edit 76%93%

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

Sensitive Findings

Finding SensitivitySpecificity Comments, Study
Elevated Urine Copper Edit Sensitivity = 87%

>1.6 umol/24 hr. Specificity not assessed.

Study: Gut. 2007 Jan;56(1):115-20. PMID: 16709660

Serum Copper Edit Sensitivity = 87%

non-ceruloplasmin-bound. Cutoff >25ug/dl.

Study: Gut. 2007 Jan;56(1):115-20. PMID: 16709660

Poorly Diagnostic Findings

Finding SensitivitySpecificity Comments, Study
Kayser-Fleischer Ring Edit 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 SensitivitySpecificity Comments, Study
Genetic Testing Edit 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.