Wilson's Disease - almostadoctor

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Wilson’s Disease

3 Mar, 2020
Post author:Dr Tom Leach
Reading time:1 mins read
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Post category:Gastroenterology / Liver

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Inheritance

Autosomal recessive

Pathology

Copper incorporation into caeruloplasmin in hepatocytes and and its excretion into bile is impaired so copper is deposited into organs (firstly liver, then basal ganglia)

Clinical

Presents in children with liver failure/jaundice
Presents in young adults with CNS signs e.g. ataxia, tremor, dysarthria
Eyes: kayser fleischer rings (gold ring around iris)

Investigations

24 hr urinary copper excretion high
Serum copper and caeruloplasmin levels low
Liver Biopsy
MRI: basal ganglia degeneration

Management

Life long Penicillamine (copper chelation)

Tags: Gastroenterology, Liver

Dr Tom Leach

Dr Tom Leach MBChB DCH EMCert(ACEM) FRACGP currently works as a GP and an Emergency Department CMO in Australia. He is also a Clinical Associate Lecturer at the Australian National University, and is studying for a Masters of Sports Medicine at the University of Queensland. After graduating from his medical degree at the University of Manchester in 2011, Tom completed his Foundation Training at Bolton Royal Hospital, before moving to Australia in 2013. He started almostadoctor whilst a third year medical student in 2009. Read full bio