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Disease Categories > Gastrointestinal Disease

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Wilson Disease

Wilson disease (also called hepatolenticular degeneration, Westphal-Struempell disease, Westphal pseudosclerosis) is an autosomal recessive inherited disorder of copper metabolism.

Epidemiology

Incidence – 1/30,000
Age – onset of symptoms prior to age 40

Inheritance

Autosomal recessive transmission
Caused by mutation in the ATP7B gene (located on chromosome V3)

Pathophysiology

Ceruloplasmin, a late acute phase reactant, is the principal copper-containing protein of plasma
Disease results from the absence or dysfunction of copper-transporting ATPases that reside in the trans-Golgi network of all cells
A variant P-type ATPase prevents incorporation of copper into ceruloplasmin, consequently elevating the concentration of circulating free copper
Excess copper is deposited in the kidneys, liver (where it causes cirrhosis), eyes (Kaiser-Fleischer rings) and brain (where it damages the basal ganglia)
Other conditions that prevent elimination of copper, such as biliary obstruction, may also lead to elevated free copper concentrations

Clinical Presentation

Ophthalmic manifestations
- Kayser-Fleischer rings (copper deposit on outer rim of cornea)
Hepatic manifestations – hepatitis, cirrhosis
Neurologic manifestations – movement disorders
- Dystonia
- Tremor
- Incoordination
- Bulbar and pseudobulbar palsies
- Psychiatric manifestations – behavioral disturbances, depression

Diagnosis

Laboratory testing
- Ceruloplasmin – decreased
- Serum free copper – increased
- Urine (24 hour) copper – increased
Tissue histology
- Liver biopsy – increased concentrations of copper
Genetic testing
- Consider testing for ATPase (ATP7B)

Differential Diagnosis

Degenerative cerebellar or metabolic diseases
Demyelinating diseases
Chronic hepatitis
Metabolic storage diseases
Vasculitis
Central nervous system infections

Treatment

Prompt diagnosis is important since the treatment takes 3-6 months to have the desired effect.
Untreated Wilson disease can be fatal, subsequent to fulminant liver failure and/or brain damage

Indications for Ordering

Tests generally appear in the order most useful for common clinical situations
Click on number for test-specific information in the ARUP Laboratory Test Directory

Test Name and Number	Recommended Use	Limitations	Follow Up
Wilson Disease Screening Panel, Serum 0020598 Method: Immunoturbidimetric/Inductively Coupled Plasma/Mass Spectrometry	Diagnose conditions of copper overload such as Wilson disease in symptomatic patients and/or patients with a family history of Wilson disease Panel includes serum ceruloplasmin, serum copper and free serum copper. Other tests designed to support diagnosis of Wilson disease include 24-hour urine copper, hepatic copper, slit lamp examination for Kayser-Fleischer rings and genetic testing (ATP7B)	See individual component tests
Copper, Urine 0020461 Method: Inductively Coupled Plasma/Mass Spectrometry	Order to support diagnosis of Wilson disease and to monitor therapy in patient with Wilson disease
Copper, Liver 0020694 Method: Inductively Coupled Plasma/Mass Spectrometry	Order to support diagnosis of Wilson disease
Copper, Serum 0020096 Method: Inductively Coupled Plasma/Mass Spectrometry	This test is available alone or as part of a Wilson disease serum screening panel, which also includes serum ceruloplasmin and serum free copper	Serum copper may be elevated with infection, inflammation, stress, copper supplementation, oral contraceptives, and pregnancy Concentrations are 2-3 times normal in the third trimester of pregnancy Copper may be lowered with corticosteroids, zinc, malnutrition and malabsorption
Copper, Serum Free (Direct) 0020596 Method: Inductively Coupled Plasma/Mass Spectrometry	Order to support diagnosis of Wilson disease and to monitor therapy in patient with Wilson disease	Performed with serum ultrafiltrates Elevated in Wilson disease or other conditions of copper overload Other tests used to diagnose Wilson disease include serum ceruloplasmin, 24-hour urine copper and hepatic copper Elevated results should be confirmed with a second specimen to exclude the possibility of external contamination	Slit lamp examination for Kayser-Fleischer rings and genetic testing may also be helpful
Ceruloplasmin 0050160 Method: Immunoturbidimetric	Order to support diagnosis of Wilson disease	Since ceruloplasmin is an acute phase reactant, elevated levels may be found in inflammatory conditions and may not indicate Wilson disease Pregnancy and oral contraceptives increase ceruloplasmin levels Low levels of ceruloplasmin are also found in malnutrition, malabsorption, nephrosis and severe liver disease

Additional Information

Other tests that may assist in the diagnosis of Wilson disease include slit lamp examination for Kayser-Fleisher rings and genetic testing (ATP7B)