Wilson's disease history and symptoms: Difference between revisions

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Latest revision as of 19:25, 29 August 2018

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

Overview

Patients with Wilson's disease may remain asymptomatic until the copper deposits in the liver and brain mainly. Common hepatic symptoms include abdominal distension, abdominal pain, fatigue, bleeding tendency, and esophageal varices. Common neuropsychiatric symptoms include tremors, ataxia, dysarthria, and impulsiveness. Less common symptoms of wilson's disease include urolithiasis and hematuria.

History

Family history of Wilson's disease in any other family member is important in the diagnosis as Wilson's disease is usually inhereted.

Common symptoms

Patients with Wilson's disease may remain asymptomatic until the copper deposits in the liver and brain mainly. ^[1]
Advanced cases of Wilson's disease can be presented as hepatic failure or chronic liver disease which may be associated with cirrhosis. Neurological and psychiatric manifestations are also present in most cases.
Common symptoms of Wilson's disease include the following: ^[2]^[3]
- Hepatic symptoms:
  - Abdominal distension
  - Abdominal pain
  - Fatigue
  - Bleeding tendency
  - Confusion
  - Esophageal varices
  - Spider naevi (When associated with cirrhosis)
- Neuropsychiatric symptoms:
  - Tremors
  - Ataxia
  - Dysarthria
  - Dystonia
  - Excessive salivation
  - Impulsiveness
  - Schizophrenic disorders
  - Anxiety
  - Depression

Less common symptoms

Less common symptoms of Wilson's disease include the following:
- Renal symptoms:
  - Urolithiasis
  - Hematuria

References

↑ Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007). "Wilson's disease". Lancet. 369 (9559): 397–408. doi:10.1016/S0140-6736(07)60196-2. PMID 17276780.
↑ Merle U, Schaefer M, Ferenci P, Stremmel W (2007). "Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study". Gut. 56 (1): 115–20. doi:10.1136/gut.2005.087262. PMID 16709660.
↑ European Association for Study of Liver (2012). "EASL Clinical Practice Guidelines: Wilson's disease". J Hepatol. 56 (3): 671–85. doi:10.1016/j.jhep.2011.11.007. PMID 22340672.

Template:WH Template:WS

[Ala-1] Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007). "Wilson's disease". Lancet. 369 (9559): 397–408. doi:10.1016/S0140-6736(07)60196-2. PMID 17276780.

[Merle2007-2] Merle U, Schaefer M, Ferenci P, Stremmel W (2007). "Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study". Gut. 56 (1): 115–20. doi:10.1136/gut.2005.087262. PMID 16709660.

[pmid22340672-3] European Association for Study of Liver (2012). "EASL Clinical Practice Guidelines: Wilson's disease". J Hepatol. 56 (3): 671–85. doi:10.1016/j.jhep.2011.11.007. PMID 22340672.

[1]

[2]

[3]

@@ Line 2: / Line 2: @@
 {{Template:Wilson's disease}}
-{{CMG}}
+{{CMG}}; {{AE}} {{AEL}}
 ==Overview==
-==History and symptoms==
+Patients with Wilson's disease may remain [[asymptomatic]] until the [[copper]] deposits in the [[liver]] and [[brain]] mainly. Common [[hepatic]] symptoms include [[abdominal distension]], [[abdominal pain]], [[fatigue]], [[bleeding tendency]], and [[esophageal varices]]. Common [[neuropsychiatric]] symptoms include [[tremors]], [[ataxia]], [[dysarthria]], and impulsiveness. Less common symptoms of wilson's disease include [[urolithiasis]] and [[hematuria]].
-The main sites of copper accumulation are the [[liver]] and the [[brain]], and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis.<ref name=Ala>{{cite journal |author=Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML |title=Wilson's disease |journal=Lancet |volume=369 |issue=9559 |pages=397–408 |year=2007 |pmid=17276780|doi=10.1016/S0140-6736(07)60196-2}}</ref> Patients with liver problems tend to come to medical attention earlier, generally as children or teenagers, than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson's disease; many of these patients, when tested, turn out to have been experiencing symptoms of the condition but haven't received a diagnosis.<ref name=Merle2007>{{cite journal |author=Merle U, Schaefer M, Ferenci P, Stremmel W |title=Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study|journal=Gut |volume=56 |issue=1 |pages=115–20 |year=2007 |pmid=16709660 |doi=10.1136/gut.2005.087262 |url=http://gut.bmj.com/cgi/content/full/56/1/115}}</ref>
-===Liver disease===
+==History ==
+* [[Family history]] of Wilson's disease in any other family member is important in the [[diagnosis]] as Wilson's disease is usually inhereted.
-Liver disease may present as [[tiredness]], increased bleeding tendency or confusion (due to [[hepatic encephalopathy]]) and[[portal hypertension]]. The latter, a condition in which the pressure on the [[portal vein]] is markedly increased, leads to[[esophageal varices]] (blood vessels in the [[esophagus]]) that may bleed in a life-threatening fashion, [[splenomegaly]](enlargement of the spleen) and [[ascites]] (accumulation of fluid in the abdominal cavity). On examination, signs of chronic liver disease such as [[spider angioma|spider naevi]] (small distended blood vessels, usually on the chest) may be observed. [[Chronic active hepatitis]] has caused [[cirrhosis]] of the liver in most patients by the time they develop symptoms. While most people with cirrhosis have an increased risk of [[hepatocellular carcinoma]] (liver cancer), this risk is relatively very low in Wilson's disease.<ref name=Ala/>
+== Common symptoms ==
+* Patients with Wilson's disease may remain [[asymptomatic]] until the [[copper]] deposits in the [[liver]] and [[brain]] mainly. <ref name="Ala">{{cite journal |author=Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML |title=Wilson's disease |journal=Lancet |volume=369 |issue=9559 |pages=397–408 |year=2007 |pmid=17276780|doi=10.1016/S0140-6736(07)60196-2}}</ref>
+* Advanced cases of Wilson's disease can be presented as [[hepatic failure]] or [[chronic liver disease]] which may be associated with [[cirrhosis]]. [[Neurological]] and [[psychiatric]] manifestations are also present in most cases.
+* Common symptoms of Wilson's disease include the following: <ref name="Merle2007">{{cite journal |author=Merle U, Schaefer M, Ferenci P, Stremmel W |title=Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study|journal=Gut |volume=56 |issue=1 |pages=115–20 |year=2007 |pmid=16709660 |doi=10.1136/gut.2005.087262 |url=http://gut.bmj.com/cgi/content/full/56/1/115}}</ref><ref name="pmid22340672">{{cite journal| author=European Association for Study of Liver| title=EASL Clinical Practice Guidelines: Wilson's disease. | journal=J Hepatol | year= 2012 | volume= 56 | issue= 3 | pages= 671-85 | pmid=22340672 | doi=10.1016/j.jhep.2011.11.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22340672  }}</ref>
+** '''[[Hepatic|Hepatic symptoms]]''':
+*** [[Abdominal distension]]
+*** [[Abdominal pain]]
+*** [[Fatigue]]
+*** [[Bleeding tendency]]
+*** [[Confusion]]
+*** [[Esophageal varices]]
+*** [[Spider naevi]] (When associated with [[cirrhosis]])
+** '''[[Neuropsychiatric|Neuropsychiatric symptoms]]:'''
+*** [[Tremors]]
+*** [[Ataxia]]
+*** [[Dysarthria]]
+*** [[Dystonia]]
+*** [[Excessive salivation]]
+*** Impulsiveness
+*** [[Schizophrenic disorder|Schizophrenic disorders]]
+*** [[Anxiety]]
+*** [[Depression]]
-About 5% of all patients are diagnosed only when they develop fulminant [[acute liver failure]], often in the context of a[[hemolytic anemia]] (anemia due to the destruction of red blood cells). This leads to abnormalities in protein production (identified by deranged [[coagulation]]) and metabolism by the liver. The deranged protein metabolism leads to the accumulation of waste products such as [[ammonia]] in the bloodsteam. When these irritate the [[brain]], the patient develops [[hepatic encephalopathy]] (confusion, coma, seizures and finally life-threatening [[Cerebral edema|swelling of the brain]]).<ref name=Ala/>
+== Less common symptoms ==
+* Less common symptoms of Wilson's disease include the following:
+** '''Renal symptoms:'''
+*** [[Urolithiasis]]
+*** [[Hematuria]]
-===Neuropsychiatric symptoms===
-About half the patients with Wilson's have neurological or psychiatric problems. Most patients initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Specific neurological symptoms then follow, often in the form of[[parkinsonism]] (increased rigidity and slowing of routine movements) with or without a typical hand [[tremor]], [[ataxia]] (lack of coordination) or [[dystonia]] (twisting and repetitive movements of part of the body). [[Seizure]]s and [[migraine]] appear to be more common in Wilson's disease.<ref name=Ala/>
-Psychiatric problems due to Wilson's disease may include behavioral changes, [[clinical depression|depression]], [[anxiety]] and[[psychosis]].<ref name=Ala/>
-===Other organ systems===
-[[Image:Kayser-Fleischer ring.jpg|left|thumb|200px|A Kayser-Fleischer ring in a patient with symptoms suggestive of Wilson's disease]]
-Various medical conditions have been linked with copper accumulation in Wilson's disease:
-* Eyes: ''[[Kayser-Fleischer ring]]s'' (KF rings) may be visible around the iris. They are due to copper deposition in [[Descemet's membrane]] of the [[cornea]]. They do not occur in all patients and may only be visible on [[slit lamp]] examination. Wilson's disease is also associated with sunflower [[cataract]]s, brown or green pigmentation of the anterior and posterior lens capsule. Neither cause significant visual loss.<ref name=Ala/> KF rings occur in 66% of cases, more often in those with neurological than with liver problems.<ref name=Merle2007/>
-* Kidneys: [[renal tubular acidosis#Type 2-Proximal RTA|renal tubular acidosis]], a disorder of [[bicarbonate]] handling by the[[proximal tubule]]s leads to [[nephrocalcinosis]] (calcium accumulation in the kidneys), weakening of the bone (due to calcium and phosphate loss) and occasionally [[aminoaciduria]] (loss of [[amino acid]]s, needed for protein synthesis).<ref name=Ala/>
-* Heart: [[cardiomyopathy]] (weakness of the heart muscle) is a rare but recognized problem in Wilson's disease; it may lead to[[heart failure]] (fluid accumulation due to decreased pump function) and [[cardiac arrhythmia]]s (episodes of irregular and/or abnormally fast or slow heart beat).<ref name=Ala/>
-* Hormones: [[hypoparathyroidism]] (failure of the [[parathyroid gland]]s, leading to low calcium levels), [[infertility]] and[[habitual abortion]].<ref name=Ala/>
 ==References==
@@ Line 32: / Line 44: @@
 {{WH}}
 {{WS}}
+[[Category:Gastroenterology]]
+[[Category:Hematology]]
+[[Category:Medicine]]
+[[Category:Up-To-Date]]