Wilson’s Disease: How Excess Copper Affects the Liver and Brain

Wilson’s disease is a genetic disorder of the ATP7B gene and is characterised by the body’s inability to get rid of excess copper- too much hence stays behind and begins to wreak havoc with the different organ systems- especially the liver and the brain. Wilson’s disease is hence called copper overload disorder. Copper excretion is the job of the liver- it pushes it out in bile, which then gets out via stool. Many individuals are carriers of the genes but may have no symptoms- they may pass the gene on to their children, who may be symptomatic.
Causes For Wilson’s Disease
The ATP7B gene is mutated in carriers or the parents- they have one abnormal copy and one normal copy of the gene, so no symptoms. Problems arise when the children inherit abnormal copies of the ATP7B gene – one from each parent, which is why it is called autosomal recessive inheritance.
As parents or carriers may not have symptoms, it is hard for them to know if they have the mutated gene, unless they opt for genetic screening beforehand.
Symptoms Of Wilson’s Disease
Copper can accumulate in different parts of the body and cause a variety of symptoms, so let us look at them below-
- The liver– Hepatitis can lead to severe fatigue, nausea, vomiting, pain in the upper abdomen, light coloured stool, dark coloured urine and jaundice of the eyes or skin, among other symptoms. Some individuals may develop Wislon’s disease when their liver is affected by chronic liver disease- then they may have weight loss, fluid build up in the abdomen called ascites, severe edema in the extremities, very itchy skin and severe jaundice.
- CNS related symptoms – Individuals may not be able to speak, have loss of balance and coordination, stiff feeling muscles or tremors. Changes in mood like feeling overly depressed or anxious are also observed. These are some neurological symptoms of Wilson’s disease.
- Eyes– Affected individuals have distinctive Kayser-Fleischer rings- which are gold, brown or green coloured rings bordering the corneas of the eyes. Not everyone has these rings in their eyes though.
- Systemic issues- These include anaemia caused by breakdown of blood cells, arthritis, osteoporosis, heart and kidney problems.
Get in touch with an experienced hepatologist or Wislon’s Disease at KIMS Sunshine Hospital today!
Diagnosis Of Wilson’s Disease
Wilson’s disease diagnosis tests include the following-
- Your detailed medical history is taken.
- It is followed by blood tests – that check for different enzymes or carrier proteins like ceruloplasmin, copper itself, ALT, AST for liver function, and CBC – complete blood count to check for anemia. Ceruloplasmin is a protein that binds to copper in the bloodstream and low levels are a characteristic of Wilson’s disease. Elevated levels of ALT/AST indicate liver damage.
- A slit-lamp test – to check for Kayser-Fleischer rings in the eyes.
- Urine test- You will be asked to provide urine samples over 24 hours and doctors will check how much copper is present in them all. High amounts of copper mean you have Wilson’s disease.
- Imaging– You will be asked to get an X-ray, CT, MRI of the brain, when neurological symptoms are present.
- Liver biopsy– If blood or urine tests, slit lamp tests don’t help rule out Wilson’s disease, but your symptoms are still very much present, a liver biopsy is done. The amount of copper present in liver tissue is checked using a microscope, along with looking for other signs like cirrhosis or liver damage.
Treatment Of Wilson’s Disease
Copper chelation therapy is recommended to remove copper from the body. You can also take zinc, as the body preferably absorbs zinc, over copper. Eating a low copper diet is the best measure for the long term.
Conclusion
Wilson’s disease may not cause symptoms at all but when it does, it can lead to liver and brain damage if not addressed quickly. So, call us at KIMS Sunshine Hospital, as we are the best hospital for Wilson’s disease treatment- we will diagnose, treat and help you manage the condition effectively.