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-
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