Wilson's Disease

Exam Cram

• Autosomal Recessive disorder of copper accumulation

• Presentation: hepatitis, neurology (tremor, dysphasia), psychiatry (hallucinations, depression, dementia) up to 40 year olds

• Investigations: low caeruloplasmin, raised urinary copper

• Management: low dietary copper, chelation therapy: penicillamine

Outline

Background

• Autosomal recessive inheritance- failure to excrete copper in bile, causing accumulation in brain, liver and eyes

• Caeruloplasmin carriers 95% of copper in body

• Protein affected: ATP7B defect means caeruloplasmin cannot be synethesised, therefore very low in serum

Assessment

History

• Under 40yrs 

• Children: hepatic disease

• Adults: neurology- psychois, dementia, parkinsonism, tremor

Examination

• Tremor (postural, intention, resting or wingbeating)

• Hepatomegaly

• Slit lamp: Kayser Fleisher rings (cornea)- highly specific, sensitivity 50%

Investigations

• LFTs & INR- deranged

• Ceruloplasmin: low

• 24hr urinary copper: raised

• Liver biopsy: high levels of copper

• Genetic testing

Diagnosis

Diagnostic criteria: raised copper on liver biopsy or genetic testing

Management

Work up ? Wilsons

1. LFT, INR, Serum caeruloplasmin, 24hr urinary copper and slip lamp

2. Liver biopsy

3. Genetic testing

Acute & chronic

1. Penicillamine

References and Resources

1. https://wilsondisease.org/do-i-have-wilson-disease/diagnosis/?gad_source=1&gclid=Cj0KCQjws-S-BhD2ARIsALssG0b329GOdmXgcKq_w-a4bUMmn0yTc-5oXfkr-aVu3oZNyH5UyYf99SkaAmVMEALw_wcB

Written 2024