Tools

Add a finding for this diagnosis

Add prevalence for this diagnosis

Switch to calculator mode to see positive predictive value

Switch to likelihood ratios

Sort findings by Accuracy

Sort findings by Tag

Jump To

Wilson's Disease: Sensitivity and Specificity

Introduction: aka hepatolenticular degeneration

[Edit Diagnosis] [Merge dx] [Add prevalence]

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
More, Edit...

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

Untagged

Finding	Sensitivity	Specificity	Comments, Study
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
Elevated Urine Copper	Sensitivity = 87%		>1.6 umol/24 hr. Specificity not assessed. Study: Gut. 2007 Jan;56(1):115-20. PMID: 16709660
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.
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
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
Liver Copper Content Duplicate	97%	95%	quantitative, >75mcg/g tissue. Study: Clin Gastroenterol Hepatol. 2005 Aug;3(8):811-8. PMID 16234011
Serum Copper	Sensitivity = 87%		non-ceruloplasmin-bound. Cutoff >25ug/dl. Study: Gut. 2007 Jan;56(1):115-20. PMID: 16709660
Urine Copper after Penicillamine Challenge	76%	93%	Study: J Hepatol. 2007 Aug;47(2):270-6. PMID: 17449133