Wilson's Disease Flashcards
What is Wilson’s Disease?
Rare inherited disorder of biliary copper excretion with too much copper in the liver and central nervous system (basal ganglia)
How is copper absorbed?
From the stomach and upper small intestine
How is copper transported to the liver?
Loosely bound to albumin where it is incoporated into apocaeruloplasmin, forming caeruloplasmin, where it is secreted into the blood. Remaining copper is normally excreted in bile and faeces
How is Wilson’s disease inherited?
Autosomal recessive inheritence
What chromosome is the affected gene in Wilson’s disease found?
Chromosome 13
How is copper physiology affected in Wilson’s Disease?
Intestinal copper absorption and transport into the liver are intact, but incorporation into caeruloplasmin in hepatocytes and its excretion into bile are impaired. Therefore copper accumulates in the liver, and later other organs
How do those with wilson’s disease present?
- Liver disease - cirrhosis, hepatitis, fulminant liver failure
- CNS signs
- Mood changes
- Cognitive deficits
- Kayser Fleischer rings
- Blue lunulae
- Arthritis
- Hypermobile joints
- Grey skin
What CNS signs can present in someone with Wilson’s disease?
- Tremor
- Dysarthria
- Dysphagia
- Dyskinesia
- Dystonia
- Puposeless stereotyped movements
- Demetnia
- Parkinsonism
- Microphagia
- Ataxia
What mood disturbances can occur in Wilson’s syndrome?
- Depression/mania
- Labile emotions
- Altered libido
- Personality change
What cognitive changes can occur in Wilson’s Disease?
- Reduced memory
- Quick to anger
- Slow to solve problems
- Decreased IQ
- Delusions
- Mutism
What are the following?
Kayser-Fleischer Lines
What haematological problem can those with Wilson’s syndrome have?
Haemolysis
What is the mechanism behind the following?
Copper is unable to be excreted into bile -> toxic accumulation in the liver -> Copper leaks into the systemic circulation -> copper chelates/granules are deposited in the inner portion of Descemet’s membrane in the cornea
What investigations would you consider doing in someone with suspectedd wilson’s syndrome?
- Bloods - LFT, serum caeruloplasmin, serum copper, FBC
- 24 hr Urine copper levels
- Slit lamp exam
- Liver biopsy
- MRI Brain
What might you see on FBc in someone with Wilson’s Disease?
Anaemia
What might you see on investigation of serum caeruloplasmin in someone with Wilson’s disease?
Decreased caeruloplasmin
What might you see on slit lamp examination in someone with Wilson’s disease?
Kayser-FLeischer Rings
What might you see on liver biopsy in someone with Wilson’s Disease?
- Increased hepatic copper
- Hepatitis
- Cirrhosis
How would you manage someone with Wilson’s Disease?
- Dietary advice
- Penicillamine - lifelong
- Consider liver transplantation
- Screening of family members
What dietary advice would you give someone with Wilson’s Disease?
Avoid high copper content food:
- Liver
- Chocolate
- Nuts
- Mushrooms
- Legumes
- Shellfish
What would you want to monitor in someone who is on lifelong penicillamine?
FBC + Urinary copper
