Wilson's disease
No, I'm not entirely sure why I need a page in my EM studying, but here it is.
| Headline | |
|---|---|
| Etiology | ↓copper incorporation into caeruloplasmin in hepatocytes, ↓ biliary copper excretion ⇒ Cu accumulation in liver, CNS. Autosomal recessive mutation in ATP7B |
| Epidemiology | |
| Clinical presentation | - children: liver disease (hepatitis, cirrhosis, liver failure) - Young adults: tremor, dysarthria, dysphagia, dyskinesia, dementia, parkinsonism, mood changes - Kayser-Flesicher rings, hemolysis, hypermobile joints |
| Pathogenesis | |
| Diagnostic investigations | ➥ high urine Cu excretion (>100ug), ↓ serum Cu, ↓ serum caeruloplasmin (falsely low with ↓ protein) ➥ signs of haemolysis ➥ MRI: basal ganglia, fronto-temp, cerebellum, brainstem |
| Management | Lifestyle: avoid copper-rich foods ➥ Penicillamine (500mg/6-8h PO) lifelong ➥ S/e: nausea, rash, ↓ WCC/Hb/Plt, lupus ➥ Monitor FBC, urinary Cu, monitor for ↓ WCC ➥ Pre-cirrhotic liver damage is reversible! |
| Prevention |