Wilsons Disease symptoms and treatment

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Wilson's disease is a rare hereditary disorder in which copper accumulates in the liver, brain, and other vital organs. Wilson's disease is most often diagnosed in children aged 5 to 35, but it can also affect younger and older people.

Copper is required for the growth of healthy nerves, bones, collagen, and the skin pigment melanin. Copper is generally obtained from food and excreted by a liver-produced molecule (bile).

Patients with Wilson's illness, on the other hand, do not have enough copper eliminated from their bodies, and it accumulates, potentially to deadly amounts. Wilson's disease is treatable if diagnosed early enough, and many people who have it can live a normal life.

Symptoms

Wilson's illness is present at birth, but symptoms do not show until copper levels in the brain, liver or other organs have increased.The condition's indications and symptoms vary depending on which parts of your body are affected. They could consist of the following:

Fatigue, a loss of appetite, or stomach problems are all symptoms to look out for.
The skin turns yellow, as do the whites of the eyes (jaundice)
Eye discoloration that is golden-brown in colour (Kayser-Fleischer rings)
There is a buildup of fluid in the legs or abdomen.
Issues with speech, swallowing, or physical coordination
Uncontrollable movements or muscle stiffness

Causes

Wilson's disease is an autosomal recessive condition, which means you must inherit one copy of the defective gene from each parent to get the disease. You won't get sick if you only have one faulty gene, but you'll be a carrier and can pass the gene on to your children.

Factors that are at risk

Wilson's illness is more likely to affect you if your parents or siblings have it. Inquire with your doctor about genetic testing to determine if you have Wilson's disease. Diagnosing the problem as soon as possible improves the chances of successful treatment.

Also read Whats the difference between primary and secondary hypertension ?

Diagnosis

Wilson's disease is difficult to diagnose since its signs and symptoms are often difficult to distinguish from those of other liver illnesses, such as hepatitis. Symptoms can also change over time. Because behavioural impairments occur gradually, Wilson's illness can be difficult to identify. Doctors use a mix of symptoms and test data to make diagnosis.

The following tests and techniques are used to diagnose Wilson's illness:

Blood and urine tests are performed. Your liver function, as well as the level of ceruloplasmin, a protein that binds copper in the blood, and the level of copper in your blood, can all be examined using blood tests. Your doctor may want to monitor the amount of copper excreted in your urine throughout the day.

Take a look at your eyes. Using a microscope with a high-intensity light source, an ophthalmologist analyses your eyes for Kayser-Fleischer rings, which are caused by excess copper in the eyes (slit lamp). Wilson's disease is also associated with a type of cataract called a sunflower cataract, which can be diagnosed during an eye checkup.

For testing, a sample of liver tissue is taken (biopsy). A fine needle is injected into your liver via your skin, and a little sample of tissue is taken. A laboratory examines the tissue for extra copper.

Testing for genetic mutations Wilson's disease is caused by genetic mutations that can be discovered with a blood test.

Your kidneys filter the copper, which is then excreted in your urine. Knowing your family's genetic abnormalities allows doctors to screen siblings and begin treatment before symptoms occur.

Treatment

Your doctor may prescribe chelating medications, which bind copper and then cause your organs to release it into your circulation. Copper is filtered by your kidneys and then eliminated in your urine.

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