Wilson's disease - Revision history

Danbot: Add peer-reviewed references with PMIDs

2026-03-22T09:58:28Z

Add peer-reviewed references with PMIDs

← Older revision		Revision as of 09:58, 22 March 2026
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	==Clinical Features==		==Clinical Features==

	[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]		[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]<ref>Ala A, et al. Wilsons disease. Lancet. 2007;369(9559):397-408. PMID 17276780</ref>
	[[File:Kayser-Fleischer ringArrow.jpg\|thumb\|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]]		[[File:Kayser-Fleischer ringArrow.jpg\|thumb\|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]]
	[[File:KF ring 2.jpg\|thumb\|Copper deposition on corneal Descemet's membrane on slit lamp exam.]]		[[File:KF ring 2.jpg\|thumb\|Copper deposition on corneal Descemet's membrane on slit lamp exam.]]
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	===Diagnosis===		===Diagnosis===

	*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis		*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis<ref>Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-2111. PMID 18506894</ref>

Ostermayer: Prepared the page for translation

2026-01-05T00:04:00Z

Prepared the page for translation

← Older revision		Revision as of 00:04, 5 January 2026
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			<languages/>
			<translate>

	==Background==		==Background==

	*Autosomal recessive		*Autosomal recessive
	*Impairment of biliary cellular copper excretion with accumulation in organs (mostly liver, brain, cornea)		*Impairment of biliary cellular copper excretion with accumulation in organs (mostly liver, brain, cornea)
	*Liver becomes cirrhotic with ~5% developing liver failure		*Liver becomes cirrhotic with ~5% developing liver failure


	==Clinical Features==		==Clinical Features==

	[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]		[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]
	[[File:Kayser-Fleischer ringArrow.jpg\|thumb\|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]]		[[File:Kayser-Fleischer ringArrow.jpg\|thumb\|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]]
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	*Hepatic		*Hepatic
	**Kayser-Fleischer rings (highly specific)		**Kayser-Fleischer rings (highly specific)
	**Asymptomatic (steatosis, chronic hepatitis, compensated [[cirrhosis]])		**Asymptomatic (steatosis, chronic hepatitis, compensated [[Special:MyLanguage/cirrhosis\|cirrhosis]])
	**[[Abdominal pain]] ([[acute liver failure]]/[[hepatitis]])		**[[Special:MyLanguage/Abdominal pain\|Abdominal pain]] ([[Special:MyLanguage/acute liver failure\|acute liver failure]]/[[Special:MyLanguage/hepatitis\|hepatitis]])
	**[[Jaundice]], [[hepatomegaly]], splenomegaly, [[ascites]]		**[[Special:MyLanguage/Jaundice\|Jaundice]], [[Special:MyLanguage/hepatomegaly\|hepatomegaly]], splenomegaly, [[Special:MyLanguage/ascites\|ascites]]
	**[[Upper GI bleeding]]; sequela of cirrhosis with varices		**[[Special:MyLanguage/Upper GI bleeding\|Upper GI bleeding]]; sequela of cirrhosis with varices
	*Neurologic symptoms		*Neurologic symptoms
	**[[Dysarthria]]		**[[Special:MyLanguage/Dysarthria\|Dysarthria]]
	**Gait abnormalities		**Gait abnormalities
	**Dystonia		**Dystonia
Line 21:		Line 27:
	**Parkinsonism		**Parkinsonism
	*Psychiatric symptoms		*Psychiatric symptoms
	**[[Depression]], personality changes, impulsiveness, [[psychosis]]		**[[Special:MyLanguage/Depression\|Depression]], personality changes, impulsiveness, [[Special:MyLanguage/psychosis\|psychosis]]


	==Differential Diagnosis==		==Differential Diagnosis==

			</translate>
	{{Hepatomegaly DDX}}		{{Hepatomegaly DDX}}
			<translate>


	===Neuro/psychiatric symptoms===		===Neuro/psychiatric symptoms===

	*Essential tremor		*Essential tremor
	*[[Parkinson's disease]]		*[[Special:MyLanguage/Parkinson's disease\|Parkinson's disease]]
	*Generalized dystonia		*Generalized dystonia
	*Primary psychiatric disorder (e.g. [[depression]], [[bipolar disorder]], [[schizophrenia]]		*Primary psychiatric disorder (e.g. [[Special:MyLanguage/depression\|depression]], [[Special:MyLanguage/bipolar disorder\|bipolar disorder]], [[Special:MyLanguage/schizophrenia\|schizophrenia]]
	*[[Dementia]]		*[[Special:MyLanguage/Dementia\|Dementia]]
	*Drug abuse		*Drug abuse


	==Evaluation==		==Evaluation==


	===Workup===		===Workup===
	*[[LFTs]] to assess ALT/AST
			*[[Special:MyLanguage/LFTs\|LFTs]] to assess ALT/AST
	*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)		*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
	*Ocular slit-lamp to assess for Kayser-Flesicher rings		*Ocular slit-lamp to assess for Kayser-Flesicher rings


	===Diagnosis===		===Diagnosis===

	*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis		*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis


	==Management==		==Management==

	*Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc		*Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
	*Low-copper diet		*Low-copper diet


	==Disposition==		==Disposition==

	*Hepatology consult should be made for follow up		*Hepatology consult should be made for follow up
	**Screening for hepatocellular carcinoma (HCC) recommended but unclear association		**Screening for hepatocellular carcinoma (HCC) recommended but unclear association


	==See Also==		==See Also==


	==External Links==		==External Links==


	==References==		==References==

	#Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010; 1184:173.		#Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010; 1184:173.
	#Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28 Suppl 1:28.		#Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28 Suppl 1:28.
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	[[Category:GI]]		[[Category:GI]]
			</translate>

Rossdonaldson1: /* Differential Diagnosis */

2022-09-07T20:54:36Z

Differential Diagnosis

@@ Line 24: / Line 24: @@
 ==Differential Diagnosis==
-===Hepatic dysfunction===
+{{Hepatomegaly DDX}}
 ===Neuro/psychiatric symptoms===
@@ Line 61: / Line 32: @@
 *Primary psychiatric disorder (e.g. [[depression]], [[bipolar disorder]], [[schizophrenia]]
 *[[Dementia]]
 *Drug abuse
 ==Evaluation==

Rossdonaldson1 at 19:42, 7 September 2022

2022-09-07T19:42:09Z

← Older revision		Revision as of 19:42, 7 September 2022
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	*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)		*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
	*Ocular slit-lamp to assess for Kayser-Flesicher rings		*Ocular slit-lamp to assess for Kayser-Flesicher rings
	*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis
	*Hepatology consult should be made for follow up

	===Diagnosis===		===Diagnosis===
			*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis

	==Management==		==Management==
	*Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc		*Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
	*Low-copper diet		*Low-copper diet
	*Screening for hepatocellular carcinoma (HCC) recommended but unclear association

	==Disposition==		==Disposition==
			*Hepatology consult should be made for follow up
			**Screening for hepatocellular carcinoma (HCC) recommended but unclear association

	==See Also==		==See Also==

Rossdonaldson1: /* Evaluation */

2022-09-07T19:40:28Z

Evaluation

← Older revision		Revision as of 19:40, 7 September 2022
Line 65:		Line 65:

	==Evaluation==		==Evaluation==
			===Workup===
	*[[LFTs]] to assess ALT/AST		*[[LFTs]] to assess ALT/AST
	*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)		*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
Line 70:		Line 71:
	*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis		*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis
	*Hepatology consult should be made for follow up		*Hepatology consult should be made for follow up

			===Diagnosis===

	==Management==		==Management==

Rossdonaldson1: /* Clinical Features */

2022-09-07T19:39:38Z

Clinical Features

← Older revision		Revision as of 19:39, 7 September 2022
Line 7:		Line 7:
	[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]		[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]
	[[File:Kayser-Fleischer ringArrow.jpg\|thumb\|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]]		[[File:Kayser-Fleischer ringArrow.jpg\|thumb\|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]]
			[[File:KF ring 2.jpg\|thumb\|Copper deposition on corneal Descemet's membrane on slit lamp exam.]]
	*Hepatic		*Hepatic
	**Kayser-Fleischer rings (highly specific)		**Kayser-Fleischer rings (highly specific)

Rossdonaldson1 at 19:37, 7 September 2022

2022-09-07T19:37:12Z

← Older revision		Revision as of 19:37, 7 September 2022
Line 6:		Line 6:
	==Clinical Features==		==Clinical Features==
	[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]		[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]
			[[File:Kayser-Fleischer ringArrow.jpg\|thumb\|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]]
	*Hepatic		*Hepatic
	**Kayser-Fleischer rings (highly specific)		**Kayser-Fleischer rings (highly specific)

Rossdonaldson1 at 21:06, 31 August 2022

2022-08-31T21:06:17Z

← Older revision		Revision as of 21:06, 31 August 2022
Line 74:		Line 74:
	*Screening for hepatocellular carcinoma (HCC) recommended but unclear association		*Screening for hepatocellular carcinoma (HCC) recommended but unclear association

			==Disposition==

			==See Also==

			==External Links==

	==References==		==References==
	1. Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010; 1184:173.		#Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010; 1184:173.
	2. Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28 Suppl 1:28.		#Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28 Suppl 1:28.
	3. Soltanzadeh A, Soltanzadeh P, Nafissi S, et al. Wilson's disease: a great masquerader. Eur Neurol 2007; 57:80.		#Soltanzadeh A, Soltanzadeh P, Nafissi S, et al. Wilson's disease: a great masquerader. Eur Neurol 2007; 57:80.
	4. Stremmel W, Meyerrose KW, Niederau C, et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991; 115:720.		#Stremmel W, Meyerrose KW, Niederau C, et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991; 115:720.

			[[Category:GI]]

Kfarzam: /* Evaluation */

2022-08-18T07:07:06Z

Evaluation

← Older revision		Revision as of 07:07, 18 August 2022
Line 66:		Line 66:
	*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)		*CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
	*Ocular slit-lamp to assess for Kayser-Flesicher rings		*Ocular slit-lamp to assess for Kayser-Flesicher rings
	*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion		*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis
			*Hepatology consult should be made for follow up

	==Management==		==Management==

Kfarzam: /* Clinical Features */

2022-08-18T07:06:04Z

Clinical Features

← Older revision		Revision as of 07:06, 18 August 2022
Line 7:		Line 7:
	[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]		[[File:PMC4357635 jbm-22-33-g004.png\|thumb\|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]
	*Hepatic		*Hepatic
	**Kayser-Fleischer rings		**Kayser-Fleischer rings (highly specific)
	**Asymptomatic (steatosis, chronic hepatitis, compensated [[cirrhosis]])		**Asymptomatic (steatosis, chronic hepatitis, compensated [[cirrhosis]])
	**[[Abdominal pain]] ([[acute liver failure]]/[[hepatitis]])		**[[Abdominal pain]] ([[acute liver failure]]/[[hepatitis]])