What is Wilson’s disease?
Wilson’s disease is a rare genetic condition where the body can’t clear the copper it doesn’t need. Copper is a mineral we all need in small amounts, but in Wilson’s disease it can build up in organs such as the liver, brain and eyes, affecting how they work over time.
Symptoms can appear at any age, but most people are diagnosed in childhood or early adulthood. Because Wilson’s disease affects each person differently, symptoms can sometimes be difficult to recognise at first.
Although Wilson’s disease is lifelong, it is treatable, and many people live well with the condition. Early diagnosis makes a big difference, as treatment can prevent copper from building up further, protecting long-term health.
What causes Wilson’s disease?
Wilson’s disease is caused by changes to a gene called ATP7B. This gene helps the body move copper out of the liver so it can be safely removed. When this gene doesn’t work as it should, copper builds up in organs such as the liver, brain and eyes.
Wilson’s disease is inherited in an autosomal recessive pattern, which means the genetic changes are present from birth. A person develops the condition when they inherit two copies of the altered gene. Family members may carry the gene without showing any symptoms themselves.
What are the symptoms of Wilson’s disease?
The symptoms of Wilson’s disease can vary widely, depending where the copper builds up. They can include:
- Changes in movement and coordination
– such as tremors, stiffness, slower movements or problems with balance. - Emotional or behavioural changes
– including low mood, anxiety, irritability or trouble concentrating. - Liver-related symptoms
– tiredness, tummy swelling, jaundice (yellowing of the skin or eyes) or discomfort under the ribs. - Speaking or swallowing difficulties
– caused by copper affecting the nerves and muscles involved in speech and eating. - Tremors or muscle spasms
– which may become more noticeable over time. - Difficulty with fine motor skills
– such as writing or fastening buttons. - Eye changes
– including “Kayser–Fleischer rings”, a harmless copper-coloured ring around the iris that doctors look for when diagnosing the condition.
Because Wilson’s disease affects each person differently, the early signs can be easily mistaken for other conditions.
A diagnosis usually involves blood tests, urine tests and sometimes an eye examination to check for signs of copper build-up.
