Nutritionally, we only need a small amount of copper in the body from what we eat, and excess copper gets flushed out through bile (fluid released by the liver) from our system. However, in a person affected by a rare genetic disorder called Wilson’s disease, copper doesn’t get expelled from the body and can get accumulated in different organs including the liver. This is a cause of concern as it may lead to liver failure and neurological ailments.
What is Wilson’s disease?
Dr D K Kishore, senior consultant and clinical lead, HPB (hepato-pancreato-biliary) surgery and liver transplantation, Fortis Hospital, Bannerghatta Road, Bengaluru, explains that Wilson’s disease is inherited from parents and occurs because of a mutation in a gene called ATP7B. This gene’s role is to control protein transportation by expelling excess copper into bile and then excreting it out of the system through stool and urine.
“When ATP7B doesn’t function properly, the unnecessary copper doesn’t get expelled from the system,” he explains.
Wilson’s disease also falls in the category of autosomal recessive disorder in which the child inherits one copy of a mutated gene from each parent. So, if only one of the parents has this genetic mutation, then the parent is the carrier, however, he/she will not express the disease. The child will also carry the mutation in the gene and become a carrier.
“However, if both parents have this deficient gene, then the child will express this condition,” explains Dr Kishore.
According to Bengaluru-based Dr Apurva Pande, consultant, hepatology, Aster RV Hospital, excess copper accumulation predominantly affects the liver apart from affecting organs like the brain and pancreas.
Symptoms
Experts point out that the initial stage of Wilson’s disease can be tricky to spot since they will present with non-specific symptoms like fatigue or lethargy.
If the liver damage is at an advanced stage, there will be an accumulation of water in the abdomen (ascites), or the person may present with jaundice. It may cause yellowing of the skin and the white layer of the eyes. There could also be a loss of appetite.
Apart from presenting as hepatitis or chronic liver damage (cirrhosis), in an advanced stage, Wilson’s disease may present as acute liver failure (fulminant hepatic failure).
Sometimes, signs of learning or cognitive disorders could be the result of Wilson’s disease affecting the brain. “It may manifest with a neurological problem or psychiatric problems in children including speech or learning difficulties and the child not doing well in school,” explains Dr Kishore.
In some cases, the symptoms may present as a brownish-yellowish ring around the cornea of the eye known as the Kayser-Fleischer ring (KF ring). This is not exclusively indicative of Wilson’s disease. So, to confirm the diagnosis, a slit lamp examination (a microscopic examination) is done by an ophthalmologist. Dr Pande says that sometimes, these rings are often seen in young patients who present with liver disease.
Diagnosis
Wilson’s disease may manifest at any stage of life; It can affect children and adults alike.
The following tests can diagnose the condition:
- Blood test
- Urine test
- Eye examination
A blood test usually checks the ceruloplasmin levels (a protein that binds to copper and transports it through the body). In the case of Wilson’s disease, the ceruloplasmin levels will be low. A urine test may indicate Wilson’s disease if the amount of copper in the urine is more than 100 mcg/dL. The eye examination done through a slit lamp can also reveal the excess copper content if there is a KF ring formation.
Treatment
Medication can help dispel the copper from the body.
Experts say that most cases of Wilson’s disease can be managed through medications and surgeries are very rarely needed. “The percentage of people who don’t respond to medical options [medications] and would require a [liver] transplant is less than five per cent,” explains Dr Kishore. But people benefit from transplants because once the old liver is replaced with a new liver, it starts producing the copper-binding protein, and copper is excreted into the bile.
People with neurological and psychiatric manifestations will need to consult experts from the respective fields.
The condition can be controlled if it is diagnosed and treated at an early stage.
Dietary restrictions
People with Wilson’s disease are advised not to have foods rich in copper. “Copper-rich foods like chocolates, liver meat or shellfish should be avoided,” explains Dr Kishore. Multivitamins also have trace amounts of copper and should be avoided.
People with this condition are also advised against drinking water stored in copper vessels and eating food cooked in copper vessels.
Takeaways
Wilson’s disease is a rare genetic condition in which both parents pass on the same abnormal gene to the child. The mutation of this gene causes excessive copper accumulation in the liver and other organs. If not treated in time, it can prove to be fatal.
