Wilson's disease: Revisiting an old friend

Table 2 Diagnosis tests for Wilson’s disease

Test	Normal values	Wilson disease	False negative	False positive
Ceruloplasmin	0.2-0.4 g/L	< 0.2 g/L	Increased levels:	Low levels:
			Hepatic inflammation	Malabsorption
				Malnutrition
			Estrogen	Aceruloplasminemia
			Pregnancy	Menkes’ disease
			Infection	Terminal liver disease
			Children	Nephropathy with renal protein loss
			Overestimation by immunological assay	Excess zinc ingestion
				Healthy heterozygotes WD
Non ceruloplasmin bound copper	< 0.3 μg/dL	> 10 μg/dL	Overestimation of ceruloplasmin by immunological assay	Increased levels:
				Cholestatic syndromes
				Acute liver failure
				Copper intoxication
Urinary copper excretion	< 0.6 μmol/24 h; < 40 μg/24 h	> 1.6 μmol/24 h; > 100 μg/24 h	Incomplete collection; Children	Increased levels:
				Cholestatic syndromes
				Autoimmune hepatitis
				Chronic active liver disease or hepatocellular necrosis
				Healthy heterozygotes WD
Liver biopsy	< 50 μg/g; < 0.8 μmol/g	> 250 μg/g; > 4 μmol/g	Uneven copper distribution	Increased levels:
				Cholestatic syndromes
				Idiopathic copper toxicosis disorders
Kayser Fleischer rings	Absence	Present: Neurological WD		Primary biliary cholangitis
		Absence:
		50% hepatic WD
		Asymptomatic WD

WD: Wilson’s disease.