Wilson's Disease -- Printable Tables

TITLE:	WILSON'S DISEASE
AUTHOR:	ANTHONY S. TAVILL, MD -- Department of Gastroenterology and Hepatology
REVISED:	JUNE 4, 2004

Table 1:

Key Concepts

Awareness of the clinical features of inherited metabolic liver diseases should promote proactive diagnostic evaluation.

The clinical features of certain inherited metabolic liver diseases may present in childhood, may disappear during growth and development, and may reappear in adult life.

Molecular diagnostic testing has made available genotypic evaluation in some disesases, to complement phenotypic diagnosis.

Preemptive treatment may prevent the development of phenotypic complications in some diseases (eg, hereditary hemochromatosis and Wilson's disease), and orthotopic liver transplantation may be curative in others (eg, alpha₁-antitrypsin deficiency and Wilson's disease).

Table 2:
Signs and Symptoms of Wilson's Disease
Asymptomatic	Symptomatic
Biochemical abnormalities alone Biochemical abnormalities and Kayser-Fleischer rings	Hepatic disease Chronic active hepatitis Cirrhosis Fulminant hepatitis Neurologic disease Dystonia, dysarthria, tremors, involuntary choreiform movements—eg, features of cerebellar or extrapyramidal disease Psychiatric disease, particularly with associated organic neurologic disease Renal disease Aminoaciduria, nephrocalcinosis Arthropathy with osteochondritis dissecans Opthalmologic manifestations Kayser-Fleischer rings, sunflower cataracts Hematologic manifestations Hemolysis

Table 3:
Diagnostic Tests for Wilson's Disease
Level 1 Tests	Level 2 Tests	Level 3 Tests
Low serum ceruloplasmin (< 20 mg/dl)	Liver histopathology and stainable copper	Ultrastructural study of hepatocytes
Kayser-Fleischer rings	Liver copper concentration (more than 250 µg/g dry weight)	Mutational gene analysis for Wilson's disease
Raised serum free copper (non-ceruloplasmin-bound) (more than 25 µg/dL)		Incorporation of radiocopper in to ceruloplasmin
24-hr urinary copper (more than 100 µg/24 hrs)
Adapted from reference 1.

Table 4:
Treatment of Wilson's Disease
Drug	Dose and Route of Administration
Penicillamine (Cupramine, Depen)	250 mg tid or qid p.o.
Trientine (Syprine)	250 mg tid or qid p.o.
Zinc salts sulfate, gluconate, or acetate	50 mg tid p.o. (as elemental zinc)
In all therapies, the goal is to reduce serum free copper (non-ceruloplasmin bound) to less than 10 µg/dL Zinc salts may be substituted as a maintenance therapy after adequate decoppering has been achieved, but may be the treatment of choice in selected asymptomatic Wilson's disease patients

This information is provided for general medical education purposes only and is not meant to substitute for the independent medical judgment of a physician relative to diagnostic and treatment options of a specific patient's medical condition.

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