Wilson's disease Flashcards
What is Wilson’s disease?
Autosomal recessive disorder characterised by reduced biliary excretion of copper + accumulation of copper in the liver + brain, (esp. basal ganglia).
What causes Wilson’s disease?
Mutation in a gene on chr 13 that codes for copper transporting ATPase (ATP7B) in hepatocytes
What results from the mutation in Wilson’s disease?
Interferes with transport of copper into intracellular compartments for incorporation into caeruloplasmin
Caeruloplasmin is normally secreted into plasma or excreted in bile
Excess copper damages hepatocyte mitochondria, leading to cell death + release of free copper into the plasma
Free copper then gets deposited in tissues + impairs tissue function
Describe the epidemiology of Wilson’s disease
Liver disease may present in children
Neurological disease usually presents in young adults
What may Wilson’s disease present with?
Hepatitis
Liver failure
Cirrhosis
List 4 hepatic symptoms caused by Wilson’s disease
Jaundice
Easy bruising
Variceal bleeding
Encephalopathy
List 9 neurological symptoms caused by Wilson’s disease
Dyskinesia Rigidity Tremor Dystonia Dysarthria Dysphagia Drooling Dementia Ataxia
List 3 psychiatric conditions caused by Wilson’s disease
Conduct disorder
Personality change
Psychosis
List 4 signs of liver involvement in Wilson’s disease
Hepatosplenomegaly
Jaundice
Ascites/ oedema
Gynaecomastia
Give 2 ocular signs of Wilson’s disease
Kayser-Fleischer Rings Sunflower cataract (copper accumulation in the lens, seen with a slit lamp)
Describe LFTs in Wilson’s disease
High AST
High ALT
High ALP
What other serum tests are performed in Wilson’s disease?
LOW serum caeruloplasmin
LOW serum copper
Why must caution be taken when interpreting serum caeruloplasmin?
Caeruloplasmin is an acute phase protein so may give false-negatives if there is an underlying infectious/ inflammatory process
What other investigations may be performed in Wilson’s disease?
24 hour urinary copper levels: increased
Liver biopsy: increased copper content
Genetic analysis
MRI: degeneration of basal ganglia
Why is genetic analysis complex in Wilson’s disease?
Wilson’s is caused by a wide variety of gene mutations so there isn’t a simple genetic test that can be done