Wilson's disease: Difference between revisions
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==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 | ||
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**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== | ||
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{{Hepatomegaly DDX}} | {{Hepatomegaly DDX}} | ||
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===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]] | ||
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Latest revision as of 00:04, 5 January 2026
Background
- Autosomal recessive
- Impairment of biliary cellular copper excretion with accumulation in organs (mostly liver, brain, cornea)
- Liver becomes cirrhotic with ~5% developing liver failure
Clinical Features
- Hepatic
- Kayser-Fleischer rings (highly specific)
- Asymptomatic (steatosis, chronic hepatitis, compensated cirrhosis)
- Abdominal pain (acute liver failure/hepatitis)
- Jaundice, hepatomegaly, splenomegaly, ascites
- Upper GI bleeding; sequela of cirrhosis with varices
- Neurologic symptoms
- Dysarthria
- Gait abnormalities
- Dystonia
- Tremor
- Parkinsonism
- Psychiatric symptoms
- Depression, personality changes, impulsiveness, psychosis
Differential Diagnosis
Hepatic Dysfunction
Infectious
- Hepatitis
- Malaria
- HIV (present in 50% of AIDS patients)[1]
- EBV
- Babesiosis, leptospirosis
- Typhoid
- Hepatic abscess, amebiasis
Neoplastic
Metabolic
Biliary
- Biliary cirrhosis
Drugs
- Alcoholic cirrhosis
- Alcoholic hepatitis
- Hepatotoxic drugs
Miscellaneous
- Other causes of cirrhosis
- Autoimmune hepatitis
- Veno-occlusive disease
- CHF (right heart failure)
Neuro/psychiatric symptoms
- Essential tremor
- Parkinson's disease
- Generalized dystonia
- Primary psychiatric disorder (e.g. depression, bipolar disorder, schizophrenia
- Dementia
- Drug abuse
Evaluation
Workup
- LFTs to assess ALT/AST
- CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
- Ocular slit-lamp to assess for Kayser-Flesicher rings
Diagnosis
- Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis
Management
- Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
- Low-copper diet
Disposition
- Hepatology consult should be made for follow up
- Screening for hepatocellular carcinoma (HCC) recommended but unclear association
See Also
External Links
References
- 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.
- Soltanzadeh A, Soltanzadeh P, Nafissi S, et al. Wilson's disease: a great masquerader. Eur Neurol 2007; 57:80.
- Stremmel W, Meyerrose KW, Niederau C, et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991; 115:720.
- ↑ Tintanelli's