Wilson's disease laboratory findings: Difference between revisions

Jump to navigation Jump to search
← Older edit
VisualWikitext
Shankar Kumar (talk | contribs)
Bureaucrats, nocaptcha
13,246 edits
No edit summary
Shyam Patel (talk | contribs)
nocaptcha
3,105 edits
No edit summary
 
(12 intermediate revisions by 3 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Template:Wilson's disease}}
{{Template:Wilson's disease}}
{{CMG}}
{{CMG}} {{shyam}}; {{AE}} {{AEL}}
 
== 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 ==
Line 30: Line 31:


{{WH}}
{{WH}}
{{WS}}
{{WS}}
[[Category:Gastroenterology]]
[[Category:Hematology]]
[[Category:Medicine]]
[[Category:Up-To-Date]]

Latest revision as of 18:42, 1 January 2019

Wilson's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Wilson's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Wilson's disease laboratory findings On the Web

Most recent articles

cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Wilson's disease laboratory findings

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Wilson's disease laboratory findings

CDC on Wilson's disease laboratory findings

Wilson's disease laboratory findings in the news

Blogs on Wilson's disease laboratory findings

Directions to Hospitals Treating Wilson's disease

Risk calculators and risk factors for Wilson's disease laboratory findings

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.

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Wilson%27s_disease_laboratory_findings&oldid=1513228"