Wilson's disease: Difference between revisions
(Created page with "==Background== *Autosomal recessive *Impairment of biliary cellular copper excretion with accumulation in organs (mostly liver, brain, cornea) *Liver becomes cirrhotic with ~...") |
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*Hepatic | *Hepatic | ||
**Kayser-Fleischer rings | **Kayser-Fleischer rings | ||
**Asymptomatic (steatosis, chronic hepatitis, compensated cirrhosis) | **Asymptomatic (steatosis, chronic hepatitis, compensated [[cirrhosis]]) | ||
**Abdominal pain (acute liver failure/hepatitis) | **[[Abdominal pain]] ([[acute liver failure]]/[[hepatitis]]) | ||
**Jaundice, hepatomegaly, splenomegaly, ascites | **[[Jaundice]], [[hepatomegaly]], splenomegaly, [[ascites]] | ||
**Upper GI bleeding sequela of cirrhosis with varices | **[[Upper GI bleeding]]; sequela of cirrhosis with varices | ||
*Neurologic symptoms | *Neurologic symptoms | ||
**Dysarthria | **[[Dysarthria]] | ||
**Gait abnormalities | **Gait abnormalities | ||
**Dystonia | **Dystonia | ||
| Line 18: | Line 18: | ||
**Parkinsonism | **Parkinsonism | ||
*Psychiatric symptoms | *Psychiatric symptoms | ||
**Depression, personality changes, impulsiveness, psychosis | **[[Depression]], personality changes, impulsiveness, [[psychosis]] | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
* | ===Hepatic dysfunction=== | ||
* | '''Infectious''' | ||
* | *[[Hepatitis]] | ||
* | *[[Malaria]] | ||
* | *[[HIV]] (present in 50% of AIDS patients)<ref>Tintanelli's</ref> | ||
*[[EBV]] | |||
*[[Babesiosis]], [[leptospirosis]] | |||
*[[Typhoid]] | |||
*[[Hepatic abscess]], [[amebiasis]] | |||
'''Neoplastic''' | |||
*Metastases | |||
*[[Hepatocellular carcinoma]] | |||
*[[Multiple myeloma]] | |||
*[[Leukemia]] | |||
*[[Lymphoma]] | |||
*[[Myeloproliferative disorders]] | |||
'''Metabolic''' | |||
*[[Hemochromatosis]] | |||
*[[Wilson's disease]] | |||
*[[Non-alcoholic steatohepatitis]] | |||
*[[Inborn errors of metabolism]] | |||
'''Biliary''' | |||
*Biliary cirrhosis | |||
'''Drugs''' | |||
*Alcoholic [[cirrhosis]] | |||
*[[Alcoholic hepatitis]] | |||
*[[Hepatotoxicity|Hepatotoxic drugs]] | |||
''Miscellaneous'' | |||
*Veno-occlusive disease | |||
*[[CHF]] (right heart failure) | |||
===Neuro/psychiatric symptoms== | |||
*Essential tremor | *Essential tremor | ||
*Parkinson disease | *[[Parkinson's disease]] | ||
*Generalized dystonia | *Generalized dystonia | ||
* | *Primary psychiatric disorder (e.g. [[depression]], [[bipolar disorder]], [[schizophrenia]] | ||
*[[Dementia]] | |||
* | |||
*Drug abuse | *Drug abuse | ||
==Evaluation== | ==Evaluation== | ||
*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) | ||
*Ocular slit-lamp to assess for Kayser-Flesicher rings | *Ocular slit-lamp to assess for Kayser-Flesicher rings | ||
Revision as of 01:05, 27 January 2019
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
- 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
- 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
- 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
- Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion
Management
- Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
- Low-copper diet
- Screening for hepatocellular carcinoma (HCC) recommended but unclear association
References
1. 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. 3. 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.
- ↑ Tintanelli's