May 26, 2023

Wilson’s disease: Causes, symptoms, diagnosis, treatment and prevention

Wilson's Disease could be present at birth but not show signs until copper levels start to rise. Here

are its causes, symptoms, diagnosis, treatment, prevention

Wilson's Disease is a rare genetic disorder that causes copper to accumulate in various organs,

including the liver, brain and eyes and the excess copper can cause significant damage to these

organs, leading to a range of symptoms. According to health experts, Wilson’s disease is one of

the main reasons of cirrhosis of liver beside alcohol, hepatitis B and hepatitis C virus but mostly

these diseases are silent and once symptoms come the disease is usually in an advance state.

Wilson’s disease: Causes, symptoms, diagnosis, treatment and prevention

It is a hereditary disease, which means it runs in family and is a rare genetic disorder that affects

the body's ability to remove excess copper from vital organs like the liver, brain and eyes. This

disease, also known as hepatolenticular degeneration, can cause severe neurological and liver

problems if left untreated.

Causes:

In an interview with HT Lifestyle, Dr Purshottam Vashistha, Consultant - Gastroenterology at

Apollo Hospitals in Navi Mumbai, shared, “Wilson's Disease is caused by a genetic mutation that

affects the body's ability to metabolize copper. Normally, the liver removes excess copper from

the body and releases it into the bile for excretion. In people with Wilson's Disease, this process is

disrupted, leading to the accumulation of copper in the body.”

Dr Sanjeev Rohatgi, Lead Consultant - Liver Transplant and HPB Surgery at Manipal Hospital in

Bangalore's Whitefield, revealed, “Wilson’s disease is a genetic disorder resulting in abnormal

accumulation of copper in the brain, liver, and eyes. It is an autosomal recessive transmission,

which means that if both the carrier – father, and mother have Wilson’s Disease, then there is a 1

in 4 chance of the child developing the condition. Wilson’s disease usually presents in the age

group of up to 20 years and the presentation is acute liver failure in 5% of cases whereas the rest

of the 95% present with chronic liver disease.”

Elaborating upon the same, Dr Mayank Gupta, Senior Consultant - Gastroenterology at Max Super

Speciality Hospital in Dehradun, said, “Wilson's illness is inherited as an autosomal recessive trait,

requiring the inheritance of one defective gene copy from each parent in order to manifest

symptoms. If you have just one faulty gene, you will not get sick, but you can pass the gene on to

your offspring and become a carrier. If your parents or siblings have Wilson's Disease, you may

be more susceptible to the disorder. Consult your doctor about whether you should get tested for

Wilson's Disease via genetics. The likelihood of successful treatment greatly increases with early

diagnosis of the illness.”

Symptoms:

According to Dr Purshottam Vashistha, the symptoms of Wilson's Disease can vary widely,

depending on which organs are affected and the severity of the condition. Some of the most

common symptoms include:

Liver problems, such as jaundice, abdominal pain and an enlarged liver

Neurological problems, such as tremors, difficulty speaking and muscle stiffness

Psychiatric problems, such as depression, anxiety and mood swings

Eye problems, such as a brownish ring around the cornea and difficulty seeing in low light

Dr Sanjeev Rohatgi, pointed out, “If they present with acute liver failure, there will be signs of

liver failure such as jaundice, ascites, abdominal distension, encephalopathy, and coagulopathy -

abnormal coagulation. These patients are usually very sick and they require liver transplants

straight away. The rest of the 95% of patients present with a chronic liver disease where the liver

gets affected slowly because of the accumulation of copper and eventually the liver become

cirrhotic.”

Dr Mayank Gupta insisted that while Wilson's Disease could be present at birth, it does not show

any signs or symptoms until copper levels in the brain, liver or another organ start to rise.

Depending on the areas of your body that the disease has damaged, your signs and symptoms will

vary. They may consist of:

Fatigue, a lack of appetite, or stomach discomfort

A jaundice-like yellowing of the skin and eye whites

Eye discolouration that is golden-brown (Kayser-Fleischer Rings)

Accumulation of fluid in the legs or abdomen

Speech, swallowing, or motor coordination issues

Uncontrolled motions or rigid muscles

Diagnosis:

Dr Chetan Kalal, Program Director - Hepatology and Transplant Medicine at Nanavati Max Super

Speciality Hospital in Mumbai, explained, “Diagnosing Wilson's Disease can be challenging, as

the symptoms are similar to those of other conditions. A complete medical history, physical

examination and blood tests can help diagnose the disease. However, the gold standard for

diagnosis is a liver biopsy, which can detect the presence of excess copper in the liver. Genetic

testing can also confirm the presence of the ATP7B mutation.”

Treatment:

Dr Purshottam Vashistha revealed, “The treatment for Wilson's Disease typically involves a

combination of medication and dietary changes. The goal is to reduce the amount of copper in the

body and prevent further damage to the organs. The medication used to treat Wilson's Disease is

called a chelating agent, which binds to copper in the body and allows it to be excreted. The most

commonly used chelating agent is called penicillamine, although other medications, such as

trientine and zinc, may also be used. Dietary changes can also help manage the symptoms of

Wilson's Disease. Foods that are high in copper, such as shellfish, liver, and nuts, should be

avoided. Instead, people withWilson's Disease should focus on eating a balanced diet that includes

plenty of fruits, vegetables, and whole grains.”

As per Dr Chetan Kalal, the treatment involves removing excess copper from the body and

preventing further accumulation. He said, “The primary treatment is medication, such as chelating

agents, which bind to copper and remove it from the body. Zinc acetate and penicillamine are the

two most commonly used medications to treat Wilson's Disease. A liver transplant may be

necessary in severe cases, especially if the liver has suffered irreversible damage. The success rate

of liver transplants for Wilson's Disease is high, and most patients see a significant improvement

in their symptoms after the procedure. However, this is a costly and invasive procedure, which is

not viable for all patients.”

Bringing his expertise to the same, Dr Sanjeev Rohatgi said, “There are some medications that

help in chronic liver disease such as chelating agents like penicillamine, which tries to eliminate

the excess copper and zinc supplements are given to reduce the absorption of copper from the

intestine. Thus, medical treatment gives us some time to prevent the liver from decompensation.

The diagnosis is usually made with urine examination where the amount of copper is extremely

high and a low ceruloplasmin test – a blood test that measures the amount of the protein

(ceruloplasmin) in your blood that carries copper. Our aim is to recognise these patients early and

treat them initially with medical treatment and eventually, with liver transplants. If one of the

parents is donating livers, their genetic study and tests are done, so that they do not have chances

of developing disease themselves.”

Dr Mayank Gupta asserted thatWilson’s Disease patients require lifetime care as acute liver failure

could result from stopping treatment. Regular blood and urine tests are required to monitor the

effectiveness of the medication. The condition can be managed by doctors with:

Chelating agents, which are drugs that eliminate copper from the body, contain zinc, which stops

the intestines from absorbing copper.

In many instances, medication can lessen or stop organ damage as well as the symptoms.

Additionally, doctors could advise altering your diet to eliminate items high in copper.

Prevention:

Dr Chetan Kalal highlighted, “Since Wilson's Disease is a genetic disorder, it cannot be prevented

entirely. However, early diagnosis and treatment can prevent severe complications and improve

the quality of life of those affected by the disease. It is essential to undergo regular check-ups and

screening tests if you have a family history of Wilson's Disease or are experiencing any of the

symptoms.”

https://www.hindustantimes.com/lifestyle/health/wilsons-disease-causes-symptoms-diagnosistreatment-

and-prevention-101685003038786.html

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