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Wilson's disease (Complications (Neurological
Parkinsonism
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Wilson's disease
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Pathophysiology
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Mechanism
Normal transport of Cu from gut to the liver and into liver
Cu transporting ATPase in liver cannot incorporate Cu into ceroluplasmin within hepatocytes
Reduced secretion of Cu into the biliary system
Cu deposits in liver, CNS (BG), cornea, renal tubules
Outcome
Liver issues in children (hepatitis, cirrhosis, fulminant failure)
CNS presentations in early adulthood also ocular, skin and musculoskeletal
Diagnosis
Examination
Abdo
May have jaundice, tender RUQ,
hepatomegaly, splenomegaly
Neurological
Tremor, dyskinesia, dystonia,
dysarthria, dysphagia, ataxia
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Investigations
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Bloods
FBC, Fe studies, CRP, U+E (may be deranged if renal damage),
LFTs (may be deranged), Cu studies (low serum
ceruloplasmin, low serum Cu)
Genetic testing (Wilson's disease)
Imaging
Abdo USS in children: hepatitis
CT/MRI abo: hepatitis/cirrhosis, renal infiltrates
CT/MRI head: degeneration in BG, cerebellum, brainstem etc.
Slit lamp: Keiser-fleischer rings
Biopsy
Liver biopsy: hepatitis, cirrhosis, high Cu
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History
PMH
Growth and development (delay),
known medical conditions
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PC/HPC
Children: jaundice, abdo pain, confusion,
pruritus, N+V, fever
Adults: movement changes,
personality changes, joint pains
FH
Wilsons disease, other metabolic disease,
liver disease, psychiatric diseases
SH
Living arrangements, occupation/school,
smoking, alcohol
Management
Medical
Penicillamine
Indication: all patients lifelong
MOA: Cu chelator, prevents
incorporation into tissues
SEs: nausea, rash, pancytopenia,
haematuria, SLE
Trientine
Indication: if penicillamine CI
SEs: rash, anaemia
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Conservative
Information, advice, support
Lifestyle (avoid high Cu food e.g. liver,
chocolate, nuts, muschrooms)
Genetic screening of relatives
Clinical
presentation
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Adults
Neurological
Movement disorder e.g. tremor, dyskinesia, dystonia,
dysarthria, ataxia, Parkinsonism
Weakness e.g. dysphagia
Psychiatric
Depressed mood (labile, personality change)
Cognition (memory loss, delusions, reduced IQ)
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