What Is Wilson's Disease

  • Deepika Rana Bachelor of Dental Surgery(BDS), Dentistry , H.P.Government Dental College, IGMC Shimla.Himachal Pradesh

My annual health reports of blood and urine tests showed low red blood cell counts, elevated copper levels, and abnormally high levels of alanine transaminase (ALT) and aspartate transaminase (AST). More diagnostic testing was advised by my doctor, who believes I may have Wilson's disease. You might have overheard your friends discussing this at a gathering or a party. Let's take a closer look at the article to better understand Wilson's disease.

Wilson’s disease is a rare hereditary disorder that develops when the body has excessive copper, particularly in the liver and brain. Although your body only requires a little amount of copper from food to keep healthy, Wilson’s disease can result in high copper levels that can harm your organs in a way that puts your life in danger.1

Wilson's condition requires lifetime treatment, and many patients, particularly those who are asymptomatic, find it difficult to adhere to their regimen. This article will provide you with accurate information regarding the disease's causes, symptoms, management, and treatment.


Wilson's illness is a rare genetic disorder that appears when there is an excess of copper in the brain and liver in particular.3

It hinders the body's ability to eliminate additional copper from your system.

To stay healthy, your body requires dietary copper at modest levels. Yet too much copper can be harmful. Typically, excess copper is excreted by the liver in bile. Bile, a liquid used for digestion, is produced by the liver. It transports waste and toxins from your body through the digestive tract. The Liver can become damaged when it's forced to store too much copper over time. In addition to harming your eyes and brain, the additional copper can enter your bloodstream and accumulate in other organs. Wilson's disease has the potential to be fatal in the long run.2

Due to variations in both copies of the gene in each cell, this disorder is inherited in an autosomal recessive pattern. One mutated gene is present in each parent of a person with an autosomal recessive disorder, although often, neither parent exhibits the disease's symptoms. Those having a family history of the illness are more likely to have it. It mostly affects people between the ages of 5 and 35, while it can also strike those who are younger or older. One in 30,000 people is thought to be affected by Wilson’s disease. 1,4

Credit: National Library of Medicine 5  

Causes of wilson's disease

Variants in the ATP7B gene, typically referred to as mutations, are the root cause of Wilson's disease. The copper-transporting ATPase 2 protein, which is made possible by this gene, aids in the movement of copper from the liver to other areas of the body. In particular, the copper-transporting ATPase 2 protein is crucial for the body's removal of extra copper. The ATP7B gene has variants that interfere with the correct operation of the transport protein. Lack of functioning protein prevents the body from excreting extra copper. Because of this, copper can build up to hazardous amounts and harm tissues and organs, especially the liver and brain.

According to research, a typical variant in the PRNP gene may alter how Wilson's illness develops. The prion protein, active in the brain and other tissues, may play a role in copper transport and is made using instructions from the PRNP gene. Research has concentrated on the consequences of a mutation in the PRNP gene that affects the prion protein at position 129.

However, larger research is required before it can be determined how this PRNP gene variant affects Wilson's illness.4

Signs and symptoms of wilson's disease

The symptoms of Wilson's disease are varied. The conditions are present at birth, although symptoms do not show until copper builds up in the liver, brain, or other organs.

  Liver symptoms:

  • Fatigue
  • Vomiting and nausea 
  • Low appetite
  • Experiencing upper abdominal pain near the liver
  • The urine colour is dark
  • The light colour of the stool
  • Eye whites and the skin have a yellow tinge (Jaundice)
  • Inflammation of the liver (Hepatitis)
  • Decrease in liver function (acute liver failure)

Some Wilson’s disease sufferers only have symptoms when they experience problems from cirrhosis and chronic liver disease. The signs could consist of:

  • Weakness and exhaustion
  • Unexpected weight loss
  • Abdominal bloating brought on by an accumulation of fluid (ascites)
  • Lower leg, ankle, or foot swelling (edema)
  • Rough skin
  • Severe jaundice

   Nervous system symptoms:

  • Problems with speaking, swallowing, or body coordination
  • Rigid muscles
  • Uncontrollable or tremor-like movements

   Mental health symptoms:

   Eye symptoms

  • Rings around the corneal border that is greenish, goldish, or brownish (Kayser-Fleischer rings)
  • The rings are caused by an accumulation of copper in the eyes. 

More than 90% of those with nervous system symptoms exhibit Kayser-Fleischer rings. Yet, 5 or 6 out of 10 individuals with only hepatic symptoms have Kayser-Fleischer rings.

   Other symptoms

Credit: Biomedicines7


Management and treatment for wilson's disease

Wilson's disease cannot be prevented. Organ damage can be minimised or avoided with early diagnosis and treatment.

The lifelong management for Wilson's disease aims to reduce copper levels to nontoxic levels, stop the condition from progressing, and try to correct any signs and symptoms that have developed because of copper accumulation in the body.


The usage of chelating substances, such as Penicillamine (Cuprimine) and Trientine dihydrochloride (Syprine), that remove copper from the body through urinary excretion, prevents the gut from absorbing copper from food.

Tetrathiomolybdate limits the absorption of copper and renders hazardous copper in the blood harmless by binding it there.

Individuals who develop mild to moderate liver dysfunction symptoms can be effectively treated for 4-6 months with a combination of Trientine and zinc. Galzin, or zinc acetate, has been licensed for use in patients' maintenance treatments. Due to its low risk of side effects, zinc treatment is frequently recommended in youngsters and expectant women. Maintenance therapy with Trientine can be desirable for some patients who cannot tolerate zinc because it irritates their stomachs.

Vitamin B6 for boosting the neurological system. Withdrawal from Wilson’s disease treatment may result in a quick buildup of copper and potentially fatal situations. Liver transplantation can save lives in patients with severe liver failure.3,8

Dietary changes

Avoid copper-rich food, which includes shellfish, liver, chocolate, dried fruit, dried beans and peas, mushrooms, and nuts.

Remove copper from tap water that runs from wells or copper pipes using a water filter. Use food supplements, such as vitamins, without copper.1

Diagnosis of wilson's disease

  The subsequent tests are conducted to establish a diagnosis.

  • Eye Exam: Kayser-Fleischer rings are visible to a doctor during a specialized eye test known as a slit-lamp exam.
  • Blood Tests: Many components in the blood can be examined through blood tests, such as a protein called Ceruloplasmin, which transports copper in the blood. Low levels of ceruloplasmin are common in people with Wilson’s disease. Blood copper levels in people with Wilson’s disease may be higher or lower than usual. When there is liver injury, the liver enzymes Alanine transaminase (ALT) and Aspartate transaminase (AST) are elevated. Low red blood cell counts are possible in those who have Wilson's disease (anaemia). Moreover, prenatal genetic testing may also be necessary.
  • A test of 24-hour urine collection: This measures the amount of copper in your urine over 24 hours.
  • Liver Biopsy: A little portion of the liver is taken out for analysis.
  • Imaging Tests: Imaging procedures such as X-rays, MRIs, and CT scans are used to find problems in the neurological system.1,2

Risks factors

See your doctor about whether you should get tested for Wilson's disease via genetics.If Wilson's disease is not treated, life expectancy is low.


Significant issues include:

Liver scarring (cirrhosis): Scar tissue develops as liver cells attempt to heal the damage caused by too much copper, making it harder for the liver to operate.

Liver malfunction: This can develop gradually over time or suddenly (acute liver failure). An option for treatment could be a liver transplant.

Ongoing neurological issues: Treatment for Wilson's illness typically makes tremors, involuntary muscle movements, clumsy gait, and speech impairments better. Unfortunately, some patients continue to experience neurological problems despite treatment.

Kidney issues: Wilson's disease can harm the kidneys, leading to complications, including kidney stones and an abnormal amount of amino acids being removed from the urine.

Psychological difficulties: Changes in personality, depression, irritability, bipolar disorder, or psychosis are a few examples of these.

Blood issues: Hemolysis, which results in anaemia and jaundice by destroying red blood cells.9


Without medical care, Wilson's condition is fatal. Although there is no treatment for the illness, it can be controlled. The best prognosis for patients with this genetic disease is early detection and treatment. Life-threatening problems can be avoided with proper care.


  1. Wilson disease: symptoms & causes [Internet]. Cleveland Clinic. [cited 2023 Apr 2]. Available from: https://my.clevelandclinic.org/health/diseases/5957-wilson-disease
  2. Wilson disease [Internet]. 2022 [cited 2023 Apr 2]. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/wilson-disease
  3. Wilson disease - symptoms, causes, treatment | nord [Internet]. [cited 2023 Apr 2]. Available from: https://rarediseases.org/rare-diseases/wilson-disease/
  4. Wilson disease: medlineplus genetics [Internet]. [cited 2023 Apr 2]. Available from: https://medlineplus.gov/genetics/condition/wilson-disease/
  5. Alliance G, Health D of CD of. Consumer fact sheets [Internet]. Genetic Alliance; 2010 [cited 2023 Apr 2]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK132133/ - image of autosomal recessive and dominant
  6. Symptoms & causes of wilson disease - niddk [Internet]. National Institute of Diabetes and Digestive and Kidney Diseases. [cited 2023 Apr 3]. Available from: https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/symptoms-causes
  7. Sánchez-Monteagudo A, Ripollés E, Berenguer M, Espinós C. Wilson’s disease: facing the challenge of diagnosing a rare disease. Biomedicines [Internet]. 2021 Aug 28 [cited 2023 Apr 3];9(9):1100. Available from: https://www.mdpi.com/2227-9059/9/9/1100 - image of signs and symptoms
  8. Services D of H& H. Wilson’s disease [Internet]. [cited 2023 Apr 4]. Available from: http://www.betterhealth.vic.gov.au/health/conditionsandtreatments/wilson-disease
  9. Wilson’s disease - Symptoms and causes [Internet]. Mayo Clinic. [cited 2023 Apr 4]. Available from: https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251
This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Deepika Rana

Bachelor of Dental Surgery(BDS), Dentistry , H.P.Government Dental College, IGMC Shimla.Himachal Pradesh

Hi, I am Deepika Rana Dentist by profession finished my Clinical Research Certification Programme from Duke NUS Medical school, Singapore in 2022. I joined Klarity’s internship because of my ongoing desire to learn and educate others about medicine through Writing. I enjoy producing articles that give readers detailed information about a variety of ailments that can be accessed through the Health Library created by Klarity.

my.klarity.health presents all health information in line with our terms and conditions. It is essential to understand that the medical information available on our platform is not intended to substitute the relationship between a patient and their physician or doctor, as well as any medical guidance they offer. Always consult with a healthcare professional before making any decisions based on the information found on our website.
Klarity is a citizen-centric health data management platform that enables citizens to securely access, control and share their own health data. Klarity Health Library aims to provide clear and evidence-based health and wellness related informative articles. 
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