Wilson Disease is an autosomal recessive disorder of copper metabolism.
It is inherited on chromosome 13 and is due to a mutation on gene ATP7B which codes for a copper transporting ATPase. This mutation results in decreased biliary copper excretion and thus copper accumulation. The classic complications of this copper accumulation are liver and neurological problems.
Manifestations of Wilson disease include:
- Liver
- Hepatitis
- Cirrhosis
- Fulminant hepatic failure
- Neurological
- Seizures
- Tremors
- Ataxia
- Psychiatric
- Depression
- Dementia
- Other
- Haemolytic anaemia
- Kayser-Fleischer rings
- yellow-brown discoloration of the descemet membrane – pathognomonic
- present is
- almost all Wilson disease with neurological manifestations
- around half of Wilson disease with hepatic manifestations
- Fanconi syndrome
- Renal stones
- Hypoparathyroidism
- Cardiomyopathy
- Arthritis
- Azure nails
Diagnosis
- Serum ceruloplasmin – low in Wilson disease – but as it is an acute phase protein may be normal
- 24 hr urinary copper – raised in Wilson disease
- measurement of hepatic copper
Treatment
- First line: Penicillamine – can rarely cause thrombocytopenia and leukopenia
- Second line: Trienteine – if patient intolerant of penicillamine
- Zinc as an adjuvant or if patient intolerant of both penicillamine and trienteine
- Liver transplant if hepatic failure
