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== Overview ==
== Overview ==
Laboratory findings suggestive for Wilson's disease include low [[ceruloplasmin]] level, high [[Copper|serum copper]] concentration and high [[urinary]] excretion of the [[copper]].
== Laboratory findings==
== Laboratory findings==
Wilson's disease may be suspected on the basis of any of the symptoms mentioned above, or when a close relative has been found to have Wilson's. Most patients have slightly abnormal [[liver function tests]] such as a raised [[aspartate transaminase]], [[alanine transaminase]] and [[bilirubin]] level. If the liver damage is significant, [[albumin]] may be decreased due to an inability of damaged liver cells to produce this protein; likewise, the [[prothrombin time]] (a test of [[coagulation]]) may be prolonged as the liver is unable to produce proteins known as clotting factors.<ref name=Ala/> [[Alkaline phosphatase]] levels are relatively low in patients with Wilson's-related acute liver failure.<ref name="pmid3758940">{{cite journal |author=Shaver WA, Bhatt H, Combes B|title=Low serum alkaline phosphatase activity in Wilson's disease |journal=Hepatology |volume=6 |issue=5 |pages=859–63 |year=1986|pmid=3758940 |doi=10.1002/hep.1840060509}}</ref> If there are neurological symptoms, [[magnetic resonance imaging]] (MRI) of the brain is usually performed; this shows hyperintensities in the part of the brain called the [[basal ganglia]] in the [[spin-spin relaxation time|T2]] setting.<ref name=Roberts>{{cite journal| author=Roberts EA, Schilsky ML |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|url=http://www3.interscience.wiley.com/cgi-bin/fulltext/106595824/PDFSTART |format=PDF}}</ref>
* Laboratory tests are important in cases presenting with impaired [[Liver function tests|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.
There is no totally reliable test for Wilson's disease, but levels of [[ceruloplasmin]] and copper in the blood, as well of the amount of copper excreted in urine during a 24 hour period, are together used to form an impression of the amount of copper in the body. The [[gold standard (test)|gold standard]] or most ideal test is a [[liver biopsy]].<ref name=Ala/>
* 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><ref name="pmid7708681">{{cite journal| author=Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD| title=Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. | journal=Proc Natl Acad Sci U S A | year= 1995 | volume= 92 | issue= 7 | pages= 2539-43 | pmid=7708681 | doi= | pmc=42253 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7708681  }}</ref>  
 
** [[Ceruloplasmin]] level 
=== Ceruloplasmin ===
** [[Copper|Serum copper]] concentration 
 
** [[Urinary]] excretion of the [[copper]] (24hr monitoring)
[[Image:PBB Protein CP image.jpg|left|thumb|80px|Ceruloplasmin]]
=== 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.
Levels of [[ceruloplasmin]] are abnormally low (<0.2&nbsp;gram/liter) in 80-95% of cases.<ref name=Ala/>
* Low ceruloplasmin level in patients whose examination shows [[Kayser-Fleischer ring]] and [[neurologic]] manifestations is diagnostic for Wilson's disease.


It can, however, be present at normal levels in people with ongoing [[inflammation]] as it is an [[acute phase protein]].
=== Serum copper concentration ===
* Patients with Wilson's disease will have high level of total body concentration of the [[copper]] regardless the copper overload.  


Low ceruloplasmin is also found in [[Menkes disease]] and [[aceruloplasminemia]], which are related to, but much rarer than, Wilson's disease.<ref name=Ala/><ref name=Roberts/>
=== 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&nbsp;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]].  


The combination of neurological symptoms, Kayser-Fleisher rings and a low ceruloplasmin level is considered sufficient for the diagnosis of Wilson's disease. In many cases, however, further tests are needed.<ref name=Roberts/>
=== Liver function testing ===
 
* In patients with Wilson's disease, liver function testing will be abnormal. This includes AST, ALT, total bilirubin, and alkaline phosphatase.
=== Serum and urine copper ===
 
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&nbsp;μg/24h (1.6&nbsp;μmol/24h) confirm Wilson's disease, and levels above 40&nbsp;μg/24h (0.6&nbsp;μmol/24h) are strongly indicative.<ref name=Ala/> 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).<ref name=Roberts/>
 
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&nbsp;μg (25&nbsp;μmol), it is a reliable indicator of Wilson's disease. This test has not been validated in adults.<ref name=Roberts/>


== References ==
== References ==
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Latest revision as of 18:42, 1 January 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [3]

Overview

Laboratory findings suggestive for Wilson's disease include low ceruloplasmin level, high serum copper concentration and high urinary excretion of the copper.

Laboratory findings

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 ring 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.

Liver function testing

  • In patients with Wilson's disease, liver function testing will be abnormal. This includes AST, ALT, total bilirubin, and alkaline phosphatase.

References

  1. ↑ 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.
  2. ↑ Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD (1995). "Aceruloplasminemia: molecular characterization of this disorder of iron metabolism". Proc Natl Acad Sci U S A. 92 (7): 2539–43. PMC 42253. PMID 7708681.

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