Were you aware that if your liver does not excrete excess copper into the bile regularly, your liver can get damaged due to copper accumulation? Well, this condition is known as Wilson’s Disease, and it can be inherited too.
This is why we at TABIIB would wish to shed some light on Wilson’s Disease.
What Is Wilson’s Disease?
Most of the copper in the body is present in the liver, bones, and muscle, but traces of copper can be found in all tissues of the body. The liver excretes excess copper into the bile for elimination from the body.
In individuals with Wilson disease, the liver doesn’t excrete excess copper. This copper accumulates and affects the liver and causes cirrhosis. Copper is then released into the blood directly from the damaged liver and taken into other organs, for example, the brain, kidneys and eyes, where the copper also builds up.
A prominent characteristic of Wilson’s disease is liver disease in children and young adults who are also affected. Older people who are diagnosed usually do not experience symptoms of liver problems, although symptoms are very mild. Signs include skin or white (jaundice), tiredness, lack of appetite and swelling of the abdomen.
In most cases, copper deposits in the front surface of the eye (the cornea) form a green to brown ring called the Kayser-Fleischer ring. Eye movements can have peculiarities such as a limited gaze-up capability.
Symptoms Of Wilson’s Disease
Generally, symptoms start between the age of 5 to 35. However, in some people, they could also start after the age of 35.
The first signs are caused by a brain injury in about half of the affected individuals. These include:
- Trouble speaking
- Trouble swallowing
- Constant Drooling,
- Personality changes and mental disorders such as schizophrenia or manic-depressive illness
The first signs of the other people are liver damage, leading to hepatitis and cirrhosis at the end.
- The irises can contain gold or greenish-gold rings (Kayser-Fleischer rings) (the coloured part of the eye). These rings occur as copper builds up. These rings in a few people are the first sign of Wilson disease.
- Anaemia can be caused by red blood cells breaking (causing hemolytic anaemia).
- Women may not have cycles of menstruation or recurrent violence
Who Is At Risk?
One in every 30 000 people has Wilson’s disease. It is inherited in most cases. To develop the disease, a pediatric patient has two malfunctioning genes – one from each parent. People with only one gene will never feel symptoms or need any medication.
Some cases the disease is not inherited. The cause of the gene defect is not identified in these cases. A family history of the disease is the only known risk factor for Wilson’s disease.
Diagnosis of Wilson’s Disease
A doctor who knows the different kinds of tests will be able to interpret the tests, as these tests and diagnosis may be complicated. The diagnosis of Wilson disease is very important. As it is relatively unusual, at first other factors may be linked to typical signs such as psychiatric symptoms or hepatitis.
Many people with Wilson can seem and feel healthy; before signs of the disease, significant symptoms may occur. Wilson also produces visible symptoms only when it is extreme. The doctor will inquire about the symptoms and history of your child and conduct physical and mental tests. It might include:
To determine the function of the liver, blood counts and ceruloplasmin measurements (a copper-carrying protein that is often low in Wilson Disease)
To identify the excess copper excreted in the urine – it is necessary to ensure the whole urine is collected for 24 hours if this test is carried out.
During the test, the doctor will lookout for a brown colouring in the cornea, in the form of an oval (Kayser-Fleischer rings).
Used to examine a small sample of liver tissue
Genetic testing shall be recommended for medical confirmation, family screening and Wilson disease suspected in unknown cases.
Treatment for Wilson’s Disease
Wilson’s Disease can be prevented and signs can also be improved with adequate care. The treatment aims to eliminate excess copper, to avoid the build-up of copper and to relieve symptoms.
Wilson’s disease is primarily treated with drugs. In general, these include:
- Zinc acetate
These drugs prevent the growth of copper in the liver, but the underlying problem which causes the accumulation cannot be resolved. Consult a Hepatologist on TABIIB to discuss this in detail. and know more about it.