Wilson’s Disease And How It Affects the Liver

What is Wilson’s disease?

Wilson’s disease is a rare genetic disorder that affects one in every thirty thousand people. A healthy liver flushes out copper through urine. For people who suffer from Wilson’s disease, the extra copper gets collected in the liver, eyes, and brain. If this condition is left untreated, it will lead to liver disease; central nervous system dysfunction and even death. The treatment for this condition is to remove the excess copper from the body and maintain normal levels of copper in the body. Early diagnosis and treatment of this condition help remove challenges and complications associated with this condition. The disease can be managed through medication or a liver transplant surgery.

How does Wilson’s disease affect the liver?

If a person suffers from Wilson’s disease, the liver cannot remove copper the usual way. Copper can damage the liver if present in more than normal amounts. The presence of copper causes inflammation in the liver, and in some cases, it causes fibrosis in the liver.

Causes of Wilson’s disease

There is a gene called ATP7B, and it is the mutation of this gene which causes this condition to develop. These mutations prevent the body from removing the extra copper. The mutations are usually inherited from the parent. Patients who suffer from the disease inherit the 2 ATP7B genes with mutations from each parent. You are also likely to get the disease if your parents are carriers of this disease.

Signs and symptoms 

Only the best liver transplant surgeon can diagnose the condition through diagnostic testing. The symptoms will vary depending on which organ in the body has been affected. The symptoms of this disease can appear in people anywhere between the ages of 6 and 45.

Symptoms include

– Pain and bloating in the abdomen 

– Muscle cramps

– Tiredness

– Anaemia

– Mental confusion

– Jaundice 

– Itching 

– No appetite or loss of appetite

– Nausea 

– Vomiting

– Weight loss

The disease also causes neurological symptoms such as

– Drooling

– Personality changes

– Facial expression changes

– Walking abnormalities

– Tremors 

– Rigidity of the body

– Changes in mood

– Insomnia

– Migraines

– Memory or speech or vision impairment

– Clumsiness in the hands

– Depression

Other symptoms 

– Low blood pressure

– Menstrual irregularities

– Kidney stones

– Arthritis 

– Nail discolouration

 Who is at risk of getting this disease?

If you have a family history of Wilson’s disease, you are more likely to get it. If it is your first-degree relative who has this disease, you are somewhat likely to get the disease. Though the symptoms usually appear from 6 to 40 years, they can also appear during any other age in a person’s life.

The diagnosis

Doctors usually conduct different kinds of tests. Your doctor will take a physical test, eye exam, blood tests, urine collection test, liver biopsy and imaging tests. 

A physical examination will be conducted to check for changes in the skin, the colour of the eyes, swelling in the lower legs and other parts of the body, liver enlargement and swelling in the abdomen.

  • An eye exam is basically done to look for Kayser- Fleischer rings in the eyes.
  • Blood tests are required to check for ceruloplasmin, a copper protein in the bloodstream. People who suffer from Wilson’s disease have low amounts of ceruloplasmin.
  • Blood tests also check for copper, as people with Wilson’s disease have lower than normal blood copper levels. 
  • Blood tests are also done to check ALT and AST levels and anaemia levels.
  • The patient’s urine is collected in a copper-free container, and observations and findings are done for 24 hours to conclude. A person who suffers from this disease has higher levels of copper in their urine.

If all these tests don’t prove helpful and if the blood or urine test doesn’t rule out or confirm Wilson’s disease, then a liver biopsy is done. During a liver biopsy, tissues are collected from the liver, and the tissues are examined under a microscope. The examination could indicate liver disease or liver damage, or liver cirrhosis and this might leads to liver disease treatment 

Imaging tests are done for people who suffer from nervous system symptoms to conclude whether they suffer from Wilson’s disease or other conditions related to the brain.

Treatment of Wilson’s disease

– Patients are given chelating agents, which remove copper from the body. 

– Treatments are also made with zinc, which stops the intestines from absorbing copper.

– A change in diet is mandatory as foods high in copper should be avoided.

Stopping treatment can complicate the disease, and patients usually have to go for a lifelong treatment which helps them manage the condition. With treatment and medication, people can aim to live a normal life.

Treatment of Wilson’s disease in pregnant women

Pregnant women are given lower doses of chelating agents, and they should continue the treatment during pregnancy. Pregnant women who have this disease don’t breastfeed if they are on chelating agents, as chemicals present in breast milk can harm babies. During pregnancy, a full dose of zinc is taken.

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