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Wilson's Disease: Causes, Symptoms, Risk Factors, Diagnosis and Treatment

Feb 20, 2024

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Causes Of Wilson's Disease

Symptoms Of Wilson's Disease

Risk Factors Of Wilson's Disease

Diagnosis Of Wilson's Disease

Treatment Of Wilson's Disease



Wilson's Disease

Wilson's disease is a rare genetic disease that causes an excess of copper to build up in the liver, brain, and eyes, among other organs. Most cases of Wilson's sickness are diagnosed between the ages of 5 and 35. Still, it could affect both young and old.

Copper is essential for the synthesis of collagen, nerves, strong bones, and the skin colour melanin. Most people consume copper through food. Your liver secretes bile, which gets rid of extra copper.

But in Wilson's disease patients, copper is not removed completely; rather, it builds up. It can occasionally be fatal if treatment is not received. When Wilson's illness is discovered early, it can be treated, and many affected people go on to enjoy normal lives.

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Causes Of Wilson's Disease

A defective gene that is inherited from both parents causes Wilson's disease. If you have a single mutant gene, you are a carrier rather than a patient. This suggests that your progeny might inherit the affected gene.

Also Read: Lynch syndrome: Causes, Symptoms, Diagnosis, Treatment and Complications

Symptoms Of Wilson's Disease

Wilson's illness is inherited, but symptoms don't show up until the liver, brain, eyes, or another organ accumulates copper. The parts of your body affected by the sickness are particular to the symptoms.

Among the symptoms are the following:

  • Tiredness
  • Loss of appetite
  • The term "jaundice" describes a yellowing of the eye's whites and skin.
  • The bands that encircle the eye's irises are called Kayser-Fleischer rings, and they have a coppery or golden-brown colour.
  • Accumulation of fluids in the stomach or legs.
  • Difficulties swallowing, speaking, or moving with coordination.
  • Personality changes, depression, and mood swings.
  • Had difficulty falling asleep and staying asleep.
  • Stiffness in the muscles or uncontrollable motions.

Also Read: Metachromatic Leukodystrophy: Cases, Symptoms, Diagnosis and Treatment

Risk Factors Of Wilson's Disease

If Wilson's sickness strikes your parents or siblings, it might strike you more frequently. Consult your doctor to see if genetic testing is required to diagnose Wilson's disease. The prognosis for recovery is greatly improved by an early diagnosis.

Sometimes Wilson's illness is lethal if treatment is not received. Important adverse effects include:

  • Liver scarring is also referred to as cirrhosis: When hepatic cells try to repair the damage caused by elevated copper levels, scar tissue forms in the liver. This makes it harder for the liver to function.
  • Liver failure: This illness, which is also known as acute liver failure or decompensated Wilson's disease, can hit without warning. It could potentially emerge gradually over several years. A liver transplant could be one kind of treatment.
  • Chronic problems with the nervous system: Tremors, uncontrollable muscle movements, unsteady walking, and trouble speaking generally improve with Wilson's disease treatment. However, some patients' neurological system problems persist even after they receive treatment.
  • Problems with the kidneys: Wilson's disease-related renal impairment can lead to issues such as kidney stones and an excessively high level of amino acids excreted in the urine.
  • Diseases of the mind: These might include personality changes, irritability, depression, bipolar disorder, or psychosis.
  • Blood-related problems: The term for the disintegration of red blood cells is hemolysis. Anaemia and jaundice are the outcomes of this.

Also Read: Waldenstrom Macroglobulinemia: Causes, Symptoms, Risk Factors, Diagnosis and Treatment

Diagnosis Of Wilson's Disease

Wilson's disease often presents with symptoms similar to other liver disorders, such as hepatitis, making diagnosis challenging. Moreover, symptoms could develop gradually. Establishing a link between Wilson's sickness and progressive behavioural changes can be especially difficult.

Doctors take into account both test findings and symptoms when diagnosing patients. Wilson's condition is identified through the subsequent examinations and methods:

  • Examinations of the urine and blood: Tests on your blood can determine the function of your liver and the quantity of a protein called ceruloplasmin, which binds copper in the blood. The level of copper in your blood can also be measured by them. It's conceivable that to assess the amount of copper excreted, your doctor will request a 24-hour urine sample.
  • Eye testing: An ophthalmologist will check your eyes for Kayser-Fleischer rings using a high-intensity light microscope. A slit-lamp test is what we call this. These rings are caused by an overabundance of copper in the eyes. Wilson's sickness is also linked to a specific type of cataract called a sunflower cataract. This cataract may be found during an eye exam.
  • Obtaining a biopsy, or sample, of liver tissue for analysis: During a biopsy, your doctor will pierce your skin to insert a tiny needle into your liver. Next, your doctor removes a little sample of tissue. To check for too much copper, a lab studies the tissue.
  • Analysis of genes: Wilson's disease-causing genetic changes are detectable by a blood test. If you carry the defective gene that results in Wilson's disease, doctors can also examine your siblings for the illness. Treatment can start before symptoms appear if a sibling has the changed gene.

Also Read: Mixed Connective Tissue Disease: Causes, Symptoms, Risk Factors, Diagnosis, Treatment and Complications

Treatment Of Wilson's Disease

Copper chelating agents are prescription drugs that your physician might recommend. These drugs attach themselves to copper and allow it to pass past your organs and into your bloodstream. Your kidneys filter the copper and then release it into your urine.

The next step in the treatment plan is to stop the reaccumulation of copper. It can be necessary to have a liver transplant if there is severe liver disease.


Patients with Wilson's disease who take medicine are given lifetime care. Medications include:

  • Penicillamine: Penicillamine is among the substances that chelate copper. It can have serious side effects, such as issues with the skin and kidneys, and worsen nervous system symptoms. It may also depress bone marrow, which stops it from making enough red blood cells and platelets. Use caution when using penicillamine if you have a penicillin allergy. Additionally, it prevents pyridoxine, or vitamin B6, from working. This suggests that you will need to take very little amounts of vitamin B6.
  • Trientine: Similar to penicillamine, trientine is another copper chelation agent that usually has fewer negative effects. Trientine, however, can make nervous system issues worse.Zinc Acetate, Galzin. This drug stops the body from obtaining copper from food. Usually, it is used to stop copper from reaccumulating after penicillamine or trientine therapy. Zinc acetate may be used as the primary treatment if you do not exhibit any symptoms or if you are unable to take penicillamine or trientine after therapy to remove excess copper. The zinc acetate causes an upset stomach.
  • Zinc Acetate: This drug stops the body from obtaining copper from food. Usually, it is used to stop copper from reaccumulating after penicillamine or trientine therapy. Zinc acetate may be used as the primary treatment if you do not exhibit any symptoms or if you are unable to take penicillamine or trientine after therapy to remove excess copper. The zinc acetate causes an upset stomach.


If your liver damage is severe, you might need a liver transplant. Most liver transplants come from donors who have passed away. Occasionally, a living donor such as a relative may provide a liver. After that, the damaged liver would be removed from you and replaced with a portion of the donor's liver by the surgeon.

Also Read: Factor V Leiden: Causes, Symptoms, Risk Factors, Diagnosis, Treatment And Complications

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