Wilson's Disease Is your Liver Filtering Out Excess Copper?
Signs and symptoms that you need to look out for
The signs and symptoms associated with Wilson's disease vary from one person to another depending upon the organ involved. In some cases, the condition might also be mistaken for some disease or ailment. Here are a few common symptoms that you need to look out for:
Related to liver
- General body weakness
- Fatigue and tiredness
- Unintentional loss of weight
- Nausea and vomiting
- Reduced appetite
- Itching
- Yellowing of face and eyes
- Oedema owing to fluid accumulation in the limbs
- Abdominal pain and discomfort
- Abdominal bloating
- Muscle cramps
Related to brain
- Speech and vision impairment
- Difficulty remembering things
- Persistent migraine
- Drooling
- Insomnia
- Behavioural and personality changes
- Depression
Related to eyes
Excessive copper build-up in the eyes can lead to sunflower cataract or development of Kayser Fleischer rings which are a result of abnormal discolouration in the eyes. K-F rings are likely to be found in 97 per cent of the people suffering from Wilson's disease, whereas sunflower cataract is found in 1 out of 5 people with Wilson's.
Apart from the above-mentioned symptoms, people suffering from Wilson's disease might also experience menstrual irregularities, fall in blood pressure, premature osteoporosis and bluish discoloration of nails.
What causes Wilson's disease?
As mentioned earlier, Wilson's disease is an inherited disorder that is passed on as an autosomal recessive trait. This means that in order to develop the disease, you need to inherit one copy of the defective gene from both of your parents. In case you receive only one gene, you will not develop the disease, but rather become a carrier.
If your parents and siblings have Wilson's, you are at an elevated risk of the same. It is, therefore, better to go for regular screening such that the problem can be diagnosed and treated at the earliest.
What will happen if the condition is left untreated?
Wilson's disease is progressive in nature, which means that the condition of the patient keeps aggravating as time passes by. This calls for the need for immediate medical intervention. Here is a list of few complications that may arise if the condition is left untreated for long:
- Cirrhosis, which is marked by the scarring of the liver
- Liver failure, marked by the inability of the liver to function properly
- Psychological problems like behavioural change and mood swings
- Renal ailments
- Haemolysis
How is the condition diagnosed?
Diagnosing Wilson's disease can be quite challenging. This is because the signs and symptoms associated with Wilson's disease resemble those of other liver ailments like hepatitis. Doctors usually recommend some tests and screening to confirm the diagnosis. These include:
- Blood and urine tests - These are done to assess the levels of ceruloplasmin and copper in the blood. Your doctor might want to keep a track of the amount of copper excreted by you along with urine in 24 hours
- Eye examination - Your eyes will be assessed for K-F or sunflower cataract, which is an important indication of Wilson's disease
- Biopsy - It involves the collection of a tissue sample from the liver of the patient, followed by its detailed evaluation to check for any signs of abnormality.
- Genetic testing - This is done by collecting and assessing the blood sample of the patient, so as to identify any signs of genetic mutation.
If you have been diagnosed with the problem, it is important to consult a specialist and evaluate all your options. Liver transplant in India has helped to change the lives of countless patients over the years.
Comments