What is Wilson's Disease (Disorder): Symptoms, Treatment and Causes

Wilson's disease is a condition in which the body does not remove excess copper which leads to the build-up of copper in organs like the liver, eyes and brain. Without timely treatment, the high copper levels in the body can lead to organ damage which can be life-threatening. Find out how to identify the signs of this disorder and how you or your loved one can get treatment on time.

What is Wilson's Disease?

Wilson's disease is also known as hepatolenticular degenerative and progressive lenticular degeneration. It is a rare genetic condition that can cause copper poisoning. This disorder is known to affect only 1 in 30,000 people globally.

Healthy individuals can filter out copper using their liver and release it through their urine. However, those who are diagnosed with Wilson's disease are not able to remove this excess copper effectively which leads to the buildup of copper in the vital organs in the body.

It is vital to get an early diagnosis of Wilson's disease to stop its progression and avoid organ damage.

Symptoms Of Wilson's Disease

To get the right treatment at the right time you or your loved one need to be able to recognise the symptoms of this disorder. Because the signs and symptoms of Wilson's disease vary depending on the organ that is damaged, it can be mistaken for another condition or disease which is why visiting your doctor is the best option if you see any of Wilson's disease symptoms mentioned below.

Liver

If there is an accumulation of copper in your liver you might experience the following symptoms

• Weakness
• Fatigue
• Nausea
• Vomiting
• Unexplained weight loss
• Loss of appetite
• Yellowing of skin/jaundice
• Itching
• Edema which is the swelling of your abdomen or legs
• Bloating and pain in the abdomen

Many of these symptoms may also indicate diseases like liver or kidney failure which is why your doctor may ask you to carry out a few tests to confirm their diagnosis of Wilson's disease.

Brain

These signs may indicate a buildup of copper in the brain

• Impairment in speech, memory or vision
• Migraines
• Insomnia
• Drooling
• Abnormal walking
• Clumsiness
• Changes in personality and mood
• Problems in school
• Depression

More advanced stages of copper buildup in the brain could result in

• Muscle pain during movement
• Muscle spasms
• Seizures

Sunflower cataracts and Kayser-Fleischer rings

Almost 97% of individuals with Wilson's disease show Kayser-Fleischer rings. These are a kind of golden-brown discolourations in the eyes because of the deposits of excess copper. Similarly 1 in 5 people with Wilson's disease will display sunflower cataract which is a distinctive multicoloured centre and spokes that radiate outwards.

Some of the other Wilson's disease symptoms include

• A bluish discolouration in the nails
• Kidney stones
• Lack of bone density or premature osteoporosis
• Menstrual irregularities
• Arthritis
• Low blood pressure

Causes of Wilson's Disease

ATP7B gene helps the body code for the transportation of copper. A mutation in this gene is the cause of Wilson's disease. To have this disease, an individual will have to inherit the gene from both of their parents. If you have this disease, then it means that your parents either have Wilson's disease or are carriers of the disease.

Diagnosis of Wilson's Disease

Wilson's disease is not the easiest to diagnose initially as Wilson's disease symptoms are similar to those of disorders like hepatitis C, cerebral palsy, and heavy metal poisoning. Usually, a doctor may rule out the possibility of Wilson's disease if the individual display neurological symptoms but has no visible K-F ring. However, there can be cases where the individual does not display symptoms especially when the condition is liver-related.

If your doctor suspects you are showing signs of Wilson's disease they may as you for your family history and all of the symptoms you are experiencing. After an in-depth physical examination where the doctor will examine your entire body, listen to the sounds from your abdomen, check your eyes for K-F rings or sunflower cataracts and test your motor skills, they may also recommend some lab tests to confirm the diagnosis.

These labs are analysed for

• Copper levels of blood
• Abnormalities in the liver enzymes
• Low blood sugar
• Low levels of ceruloplasmin which is required to carry copper through the blood
• Gene testing to check for a mutated gene

In cases of buildup of copper in the liver, you may have to undergo a liver biopsy to look for any distinct signs of liver damage or high levels of copper.

Treatment of Wilson's Disease

Your doctor might proceed with Wilson's disease treatment with chelating agents that help remove copper from the body and zinc which does not allow the intestines to absorb copper.

In most cases, treatment can help prevent organ damage and reduce symptoms. Some doctors may also recommend a few changes in your diet to reduce foods that are high in copper. In the case of pregnant women with Wilson's disease, the doctor may prescribe a lower dose of the chelating agent as the fetus needs low levels of copper to develop.

In conclusion

Wilson's disease needs lifelong treatment, the severity of the symptoms you experience will dictate the timeline as to when you will start to feel better once you start treatment. However, Wilson's disease needs you to undergo regular testing to understand how well your body is reacting to the treatment and to make any adjustments in the medicine dosage to meet your body's needs. Metropolis Labs is one of the leading diagnostic labs in India. We provide high-quality testing services and always place the convenience of our customers above all else which is why we also offer home testing services. Check out our entire list of diagnostic services.