Wilson's disease laboratory findings: Difference between revisions
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== Overview == | == Overview == | ||
Laboratory findings suggestive for Wilson's disease include high ceruloplasmin level, high serum copper concentration and high urinary excretion of the copper. | |||
== Laboratory findings== | == Laboratory findings== | ||
* Laboratory tests are important in cases presenting with impaired liver functions and neurological impairment which increase suspicion against Wilson's disease. | * Laboratory tests are important in cases presenting with impaired liver functions and neurological impairment which increase suspicion against Wilson's disease. | ||
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* The following laboratory test are recommended to diagnose Wilson's disease:<ref name="pmid12774027">{{cite journal| author=Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada| title=A practice guideline on Wilson disease. | journal=Hepatology | year= 2003 | volume= 37 | issue= 6 | pages= 1475-92 | pmid=12774027 | doi=10.1053/jhep.2003.50252 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12774027 }}</ref> | * The following laboratory test are recommended to diagnose Wilson's disease:<ref name="pmid12774027">{{cite journal| author=Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada| title=A practice guideline on Wilson disease. | journal=Hepatology | year= 2003 | volume= 37 | issue= 6 | pages= 1475-92 | pmid=12774027 | doi=10.1053/jhep.2003.50252 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12774027 }}</ref> | ||
** Ceruloplasmin level | ** Ceruloplasmin level | ||
** Serum copper concentration | |||
** Serum copper concentration | |||
** Urinary excretion of the copper (24hr monitoring) | ** Urinary excretion of the copper (24hr monitoring) | ||
=== Ceruloplasmin level === | === Ceruloplasmin level === | ||
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=== Serum copper concentration === | === Serum copper concentration === | ||
* Patients with Wilson's disease will have total body concentration of the copper regardless the copper overload | * Patients with Wilson's disease will have high level of total body concentration of the copper regardless the copper overload. | ||
In | === Urinary excretion of the copper === | ||
* In patients suspected with Wilson's disease, the urine should be collected for 24 hours in order to be examined for the copper concentration. | |||
* Copper level in urine more than 100 μg/24h is suggestive for Wilson's disease. However, it is not specific for Wilson's disease and may be elevated in other diseases as autoimmune hepatitis and cholestasis. | |||
== References == | == References == | ||
Revision as of 03:06, 27 December 2017
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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 suggestive for Wilson's disease include high ceruloplasmin level, high serum copper concentration and high urinary excretion of the copper.
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 high level of total body concentration of the copper regardless the copper overload.
Urinary excretion of the copper
- In patients suspected with Wilson's disease, the urine should be collected for 24 hours in order to be examined for the copper concentration.
- Copper level in urine more than 100 μg/24h is suggestive for Wilson's disease. However, it is not specific for Wilson's disease and may be elevated in other diseases as autoimmune hepatitis and cholestasis.
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.