Content:
- Definition of Wilsons disease
- Symptoms/Clinical manifestations
- Cause
Definition/What is Wilson’s disease?
Wilson’s disease is an autosomal recessive disorder, in which there is abnormal copper metabolism which leads to increased total body copper levels.
The excessive copper is deposited in various sites resulting in damage to:
- Liver
- Brain
- Kidneys
- Eyes
- Skeleton
Symptoms of Wilsons disease:
- Age of onset: Presents between 6 to 40 years.
- In childhood and early adolescence hepatic disease dominates and in late adolescence, neuropsychiatric manifestations dominate.
Liver involvement: In early stages, the liver appears to be grossly normal or show mild steatosis. In later stages, progressive fibrosis leads to macronodular cirrhosis.
- Asymptomatic abnormal swelling of liver and spleen.
- Acute hepatitis
- Chronic hepatitis
- Fulminant hepatitis
- Cirrhosis with portal hypertension
Neurological manifestations:
- Movement disorders, especially resting and intention tremors
- Abnormal stiffness and tightness of muscles, difficulty in swallowing and slow and slurred speech.
Psychiatric manifestations:
- Bizarre behavioural disturbances similar to schizophrenia, depressive psychosis and neurosis. *(*schizophrenia is a serious mental health condition that affects how people think, feel and behave. It may result in a mix of hallucinations, delusions and disorganized thinking and behaviour.
Eye involvement:
- Greenish-brown coloured ring develops around the periphery of the cornea. It disappears on treatment. This ring is called Kayser-Fleischer ring.
- Best detected by slit lamp treatment.
Other manifestation include:
- Kidney involvement resulting in renal tubular damage.
- Skeletal involvement leading to osteoporosis
- Arthropathy
- Cardiomyopathy
- Hemolysis
What causes Wilson’s disease?
Copper from the body is eliminated mainly by excretion in bile and it is regulated by Wilson’s disease gene ATP7B.
In Wilson’s disease, there is mutation in the ATP7B gene which leads to deficiency of ATP7B protein resulting in failure to excrete coper in bile. Copper accumulates within the liver and causes liver injury through reactive oxygen species produced by Fentons reaction (hydrogen peroxide converted to hydroxyl free radical via a catalytic reaction)