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Wilson’s Disease


It is a sporadic genetic disorder, which affects the copper metabolism in the body because of mutation in some gene on chromosome 13. It mainly affects children and adults between 5 to 35 years of age.
The human body is composed of cells, and each cell has got its’ own DNA, which is composed of chromosomes. These chromosomes are always present in pairs and are the basis of everything, our physical characteristics, attributes, mental and social behaviors, etc. These chromosomes are made up of various genetic codes and are responsible for every normal function in our body. But if due to any reason, this genetic code gets changed in any chromosome, it results in mutation and hence an abnormal functioning DNA or cell or causes any pathology.
As we know, the liver is one of the largest organs and is present in the right upper quadrant of the abdomen, and one of the primary functions of the liver is to metabolize different nutrients and minerals; the liver also metabolizes copper under normal conditions. When we eat food, copper is absorbed from the stomach and small intestine; it is absorbed and stored into the liver and is excreted in the bile in protein-bound form. This protein is known as Ceruloplasmin. Suppose this protein is not produced or gets damaged due to any reason. In that case, copper will not be excreted out of the body and accumulated in the liver and various other body tissues, and organs resulting in damage to them and manifesting different signs and symptoms discussed later.


The main leading cause of Wilson’s disease is a genetic mutation at chromosome 13.  It impairs the metabolized copper by decreased production of ceruloplasmin, resulting in accumulation and deposition of copper in liver cells, called hepatocytes. This causes the death of hepatocytes and the leakage of copper into plasma. It goes into the different organs like the brain, eyes, kidneys, and skeleton, thus causing damage to them and increased levels of copper in the blood.
Wilson’s disease is a genetic disease showing an autosomal recessive pattern, which means a person with the mutation may or may not be affected. They may only get involved when they get both affected chromosome pairs. If they have got only one affected chromosome, they are called carriers, and they can pass this mutated gene to their children.

Risk Factors

The only risk factor for Wilson’s disease is if the parents of an individual are affected, or both are carriers of the aforementioned gene mutation. In this case, the individual is at significant risk of having Wilson’s disease.

Signs And Symptoms

Wilson’s disease is present by birth, but usually, its symptoms do not appear before the age of 5 in children; it can also present later in life involving CNS, eyes, bones, and kidneys.

  • Fatigue
  • Loss of appetite
  • Fatigue, loss of appetite
  • Yellow discoloration (jaundice) of the skin and sclera (the whites of the eyes)
  • Discoloration of the eyes that is golden-brown in colour (Kayser-Fleischer rings)
  •  Accumulation of fluid in legs or abdomen
  • Problems with speech, swallowing, and physical coordination
  • Muscle stiffness
  • Uncontrolled movements

Following are some important features in different organs it involves.

Liver Disease:

  • Episodic acute hepatitis progressing to liver failure.
  • Chronic hepatitis leads to portal hypertension and liver failure.

Neurological Disease:

  • Tremors
  • Choreoathetosis (involuntary movements throughout the body)
  • Dystonia (involuntary painful muscle contractions)
  • Parkinsonism
  • Dementia (loss of memory)

Neurological symptoms develop typically after liver disease, so this should be treated accordingly.


Kayser-Fleischer rings (greenish-brown discoloration of corneal margins are present in almost 60% of the cases).
It is very rare for a patient to develop kidney and bone disease, but it can cause renal tubular damage and osteoporosis, respectively.


Following are some of the important investigations to diagnose Wilson’s disease:

  • Blood and urine test:
        Serum ceruloplasmin level (single most important test)
        Liver function test (ALT, AST, Alkaline Phosphatase (ALP), BILIRUBIN, Total Protein etc)
        Serum copper level
        24-hour urinary copper excretion (confirmatory test)
  • Eye examination
        Kayser-Fleischer ring using slit-lamp
        Sunflower cataract (in a few cases)
  • Liver biopsy
        To test the tissue for excess copper
  • Genetic Testing:
        To identify the mutation, guide about the risks and management of the patient.

Differential Diagnosis

Sign and symptoms of Wilson’s disease can mimic many other conditions, so we can formulate several differentials and rule them out accordingly based on history, examinations, and investigations performed;

  • Acute viral hepatitis
  • Parkinson’s disease
  • Liver Cirrhosis
  • Auto-immune hepatitis
  • Multiple Sclerosis


Wilson’s disease should be treated timely and appropriately; if it is not; it gets fatal and cause various complications, which are as follow:

  • Liver cirrhosis
  • Liver failure
  • Anemia and jaundice
  • Kidney stones
  • Depression, Psychosis and Bipolar disorders
  • Clumsy gait and Speech difficulty

These are long-term complications of untreated Wilson’s disease. Usually, Wilson’s disease is treated before these complications even appear.


Wilson’s disease is treatable if diagnosed earlier without causing any long-term complications. Most of the time, it responds well to medicines. The drug of choice is Penicillamine, a copper-binding agent, which increases its excretion in urine. This is a lifelong treatment, and the patient must be counseled for this. In case side effects of Penicillamine occur (i.e., rashes, protein loss, and bone marrow depression), then alternate drugs are given, such as Zinc and Trientine dihydrochloride.
Surgery:  It is only required for liver failure, for which liver transplants should be done.

Lifestyle Modifications

A patient and their guardians should be counseled about the disease, how it occurs, what are the sign and symptoms of this, what complications can occur if not treated properly, and about the management and lifestyle adjustments like:

  • Reduce intake of foods with high copper (fish, mushrooms, nuts, and chocolate).
  • Avoid multivitamins that have copper in them.
  • Check for copper levels in the tap water of your house.


The prognosis of Wilson’s disease is excellent if it is diagnosed and treated earlier. The patient lives a healthy and normal life. On the other hand, death can also occur if it causes severe complications like brain damage and liver failure.

Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on May 09, 2023.




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