Wilson disease: Difference between revisions
(Created page with "Wilson disease is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms. Symptoms can begin any time in the age of 5 – 35 years. == Pathomechanism == A mutation in the ATP7B gene, a copper transporter causes decreased copper excretion and decreased incorporation of copper into apoceruloplasmin, thereby causing...") |
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Wilson disease is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms. | '''Wilson disease''' is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms. | ||
Symptoms can begin any time in the age of 5 – 35 years. | Symptoms can begin any time in the age of 5 – 35 years. | ||
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* Hepatic symptoms | * Hepatic symptoms | ||
** [[Jaundice]] | ** [[Jaundice]] | ||
** Ascites | ** [[Ascites]] | ||
** Acute liver failure | ** [[Acute liver failure]] | ||
** Chronic hepatitis | ** Chronic [[hepatitis]] | ||
* Psychiatric symptoms | * Psychiatric symptoms | ||
** [[Dementia]] | ** [[Dementia]] | ||
| Line 19: | Line 19: | ||
** Personality change | ** Personality change | ||
* Neurological symptoms | * Neurological symptoms | ||
** Parkinsonism | ** [[Parkinsonism]] | ||
** Dystonia | ** [[Dystonia]] | ||
** Dysarthria | ** [[Dysarthria]] | ||
** Flapping tremor | ** Flapping tremor | ||
** Chorea | ** [[Chorea]] | ||
Green-brown rings on the periphery of the iris, called Kayser-Fleischer rings, are pathognomic for the disease and occurs in all cases. | Green-brown rings on the periphery of the iris, called Kayser-Fleischer rings, are pathognomic for the disease and occurs in all cases. | ||
== Diagnosis and evaluation == | == Diagnosis and evaluation == | ||
Diagnosis is based on elevated serum copper, decreased serum [[ceruloplasmin]], and increased urinary copper excretion. MRI-SWI shows deposition of metal in the brainstem. | Diagnosis is based on elevated serum copper, decreased serum [[ceruloplasmin]], and increased urinary copper excretion. [[MRI]]-SWI shows deposition of metal in the brainstem. | ||
Genetic testing can confirm the diagnosis. | Genetic testing can confirm the diagnosis. | ||
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Treatment is by a [[copper chelator]], either trientine or penicillamine. Initially given in high doses to reduce the copper levels to normal, then given lifelong to maintain copper levels in the normal range. | Treatment is by a [[copper chelator]], either trientine or penicillamine. Initially given in high doses to reduce the copper levels to normal, then given lifelong to maintain copper levels in the normal range. | ||
[[Category: | <noinclude>[[Category:Gastroenterology]] | ||
[[Category: | [[Category:Neurology]]</noinclude> | ||
Latest revision as of 22:01, 26 November 2023
Wilson disease is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms.
Symptoms can begin any time in the age of 5 – 35 years.
Pathomechanism
A mutation in the ATP7B gene, a copper transporter causes decreased copper excretion and decreased incorporation of copper into apoceruloplasmin, thereby causing increased free serum copper. This causes copper to accumulate in the liver, CNS, cornea, kidneys, etc.
Clinical features
The patient may experience any combination of hepatic, psychiatric, and neurological symptoms.
- Hepatic symptoms
- Jaundice
- Ascites
- Acute liver failure
- Chronic hepatitis
- Psychiatric symptoms
- Dementia
- Depression
- Personality change
- Neurological symptoms
- Parkinsonism
- Dystonia
- Dysarthria
- Flapping tremor
- Chorea
Green-brown rings on the periphery of the iris, called Kayser-Fleischer rings, are pathognomic for the disease and occurs in all cases.
Diagnosis and evaluation
Diagnosis is based on elevated serum copper, decreased serum ceruloplasmin, and increased urinary copper excretion. MRI-SWI shows deposition of metal in the brainstem.
Genetic testing can confirm the diagnosis.
Treatment
Treatment must begin urgently to reduce irreversible consequences. Liver symptoms improve first, while neuropsychiatric symptoms can take up to 3 years to improve.
Treatment is by a copper chelator, either trientine or penicillamine. Initially given in high doses to reduce the copper levels to normal, then given lifelong to maintain copper levels in the normal range.