Wilson's disease laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Laboratory findings
- Laboratory tests are important in cases presenting with impaired liver functions and neurological impairment which increase suspicion against Wilson's disease.
- Liver function tests show nonspecific increase of the liver enzymes aspartate transaminase and alanine transaminase. The bilirubin is elevated as well.
- The following laboratory test are recommended to diagnose Wilson's disease:[1]
- Ceruloplasmin level
- Serum copper concentration
- Urinary excretion of the copper (24hr monitoring)
Ceruloplasmin level
- Most of the patients with Wilson's disease will show a low serum level of ceruloplasmin (less than 20mg/dl). However, low ceruloplasmin level only is not sufficient for provisional diagnosis of Wilson's disease.
- Low ceruloplasmin level in patients whose examination shows Kayser-Fleischer rings and neurologic manifestations is diagnostic for Wilson's disease.
Serum copper concentration
- Patients with Wilson's disease will have total body concentration of the copper regardless the copper overload.
Serum copper and more importantly urine copper are elevated in Wilson's disease. Urine is collected for 24 hours in a bottle with a copper-free liner. Levels above 100 μg/24h (1.6 μmol/24h) confirm Wilson's disease, and levels above 40 μg/24h (0.6 μmol/24h) are strongly indicative. High urine copper levels are not unique to Wilson's disease; they are sometimes observed in autoimmune hepatitis and in cholestasis (any disease obstructing the flow of bile from the liver to the small bowel).
In children, the penicillamine test may be used. A 500 mg oral dose of penicillamine is administered, and urine collected for 24 hours. If this contains more than 1600 μg (25 μmol), it is a reliable indicator of Wilson's disease. This test has not been validated in adults.
References
- ↑ Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada (2003). "A practice guideline on Wilson disease". Hepatology. 37 (6): 1475–92. doi:10.1053/jhep.2003.50252. PMID 12774027.