Wilson’s Disease

Wilson's disease kayser fleischer

What is Wilson’s Disease?

First described by British neurologist, Dr. Samuel Alexander Kinnier Wilson in 1912, this refers to the rare genetic condition wherein there is an excessive accumulation of copper in the body. [1] Another term that is used for Wilson’s disease is hepatolenticular degeneration. [2]

A patient with this condition has the inability of the liver to excrete copper to bile. After the accumulation of copper in the liver, damage is caused to the organ until such time that the liver releases the bile to the bloodstream. As a result, it will carry copper to the other parts of the body leading to copper build up in brain, kidney, eyes, and other vital organs. [1]

Copper plays a significant role in the body. It aids in the development of bones, nerves, collagen, and melanin. Normally, copper is absorbed in the body through the digestive tract. Then, the excess copper is released by the liver as it is excreted through bile. [2]

Wilson’s Disease Symptoms

The symptoms of Wilson’s disease usually occur at age range of 5 to 35. However, there have been recent reports that there are cases which happen at ages 2 to 72 years. The most common and most dangerous effects of the disorder are liver failure, as well as central nervous system damage. If this condition is not diagnosed and treated early, it may result to death. [3]

 pathogenesis of wilsons disease

 Picture 1 : Pathogenesis of Wilsons Disease(metabolism of copper in body)

Source: eurowilson.org


Liver problems

The very first organ that is affected by the Wilson’s disease is the liver. As the bile builds up in the liver, this can result to either acute liver failure or chronic liver disease.

In a patient with acute liver failure, there is a rapid loss of the organ’s function without scarring. This can occur in a span of days to weeks.

This condition can lead to problems such as abnormalities in protein production and metabolism. The anomalies in protein levels result to blood coagulation problems which causes tendency of bleeding easily. Also, the abnormal protein metabolism can lead to build up of toxic waste products such as ammonia in the bloodstream. As it reaches the brain, it can cause irritation which results to hepatic encephalopathy (confusion, seizures, coma, and cerebral edema).

On the other hand, chronic liver disease can progress to liver cirrhosis. This condition involves scarring of the liver. Symptoms accompanying liver disease include the following:

  • Abdominal pain
  • Fatigue
  • Yellowing of the sclera (whitish part of the eye) and skin (jaundice)
  • Gastrointestinal bleeding: blood in vomit (hematemesis), black colored stool (melena)
  • Fluid accumulation in abdomen (ascites) and legs (edema)
  • Splenomegaly (enlargement of spleen) which leads to anemia and bruising tendencies
  • Confusion caused by hepatic encephalopathy. This occurs due to the inability of liver to eliminate toxins such as ammonia. This could lead to coma if untreated


Neuropsychiatric problems

Almost half of the patients with Wilson’s disease manifest neurological or psychiatric problems. These two manifestations often lead to mistakes in diagnosis.

Young children who show symptoms of the disease are misdiagnosed with behavioural problems. As for the older patients with manifestations of the disease, they are commonly associated with symptoms of Parkinson’s disease.

The following are the neuropsychiatric manifestations in a Wilson’s disease patient:

  • Cognitive deterioration
  • Coordination problems: clumsiness, tremors, uncontrolled movements, muscle rigidity, spasms, unsteady gait
  • Behavioral changes
  • Speech problems
  • Swallowing problems, drooling
  • Personality changes
  • Inappropriate behaviour
  • Poor school performance, for children


Eye, Kidney and Bone problems

  • Kayser-Fleischer ring: Golden brown corneal pigmentation caused by copper deposits. Here is a picture how Kayser-Fleischer ring looks.

Wilson's disease kayser fleischer Picture 2 : Image of Wilson’s Disease kayser fleischer ring in eye

Source: gourmandizer.com

  • Interruption with kidneys’ filtering function leading to kidney stones
  • Osteoporosis (weak, brittle bones)


Heart Problems

  • Cardiomyopathy: Weakening of cardiac or heart muscles
  • Cardiac arrhythmias: Irregularities in the rhythm of the heart, fast or slow heart beat
  • Heart Failure (decreased pump function)


Hormonal Problems

The excessive levels of copper in the body can lead to a condition called hypoparathyroidism. This is a condition wherein there is a failure of parathyroid glands to function normally. Later on, this results to low calcium levels. Also, this could lead to pregnancy problems like infertility and spontaneous abortion.


Wilson’s Disease Diagnosis

Blood and Urine Tests

Blood tests are used to determine the presence of copper in the patient’s blood as well as the level of the protein called ceruloplasmin. This also monitors the liver function.

Wilson's disease urine test

 Picture 3 : Urine test for Wilsons Disease

Source: healthcentral.com


Liver Biopsy

This procedure refers to the removal of a liver tissue sample for testing.  This involves the insertion of a needle through the skin and into the liver to obtain liver tissue. Then, it is sent to the laboratory for testing for the presence of copper.

wilson's disease liver biopsy

Picture 4 : Liver Biopsy for Wilsons Disease

Source : scripps.org


Eye Exam

This is performed by an ophthalmologist using a special microscope called slit lamp. This test is used to determine the presence of Kayser-Fleischer rings, a golden brown discoloration in the eyes. Also, there are some patients with Wilson’s disease with a condition called sunflower cataract which can seen on eye exam.



This is ordered by the doctor if there are manifestations that the brain is affected by the disease. This test creates images of the brain. Showed below is an MRI image of a patient with Wilson’s disease:

Wilson's disease MRI

 Picture 5 : MRI of Brain in Wilsons Disease

Source: gfmer.com


Genetic Testing

This is the last option when other diagnostic procedures have failed to identify conclusive results. This procedure involves extraction of blood from the patient. Then, this is screened for presence of genetic mutations causing Wilson’s disease.[4]


Wilson’s Disease Gene

Wilson’s disease result from the mutation of the gene on chromosome 13 called ATP7B. This is the gene responsible for eliminating the excess copper in the body through the liver’s production of bile. When this gene doesn’t work, it results to accumulation in different parts of the body, especially the brain. [5]

The disease is an autosomal recessive disorder. This means that in order to manifest the disease, there must be two inherited ATP7B genes in the body, one from mother, and one from father. For people who inherited one ATP7B gene, they will be a carrier. When two carriers have their child, there is a chance that 1 will be positive with Wilson’s disease, 2 will be carriers, and 1 will not have Wilson’s disease and will not be a carrier. The diagram below shows how Wilson’s disease is inherited: [5]

wilson's disease gene 1

 Picture 6 : Image of transmission of Wilsons Disease Gene in Family

Source: eurowilson.org


Wilson’s Disease Prognosis

  • When diagnosed and treated early, there is a high chance of continuing a long and healthy life.
  • If untreated, Wilson’s disease may cause death before the age of 40.
  • For those who developed the symptoms before undergoing treatment, there are some manifestations which may be eliminated but some symptoms may stay permanently.[5]


Wilson’s Disease Treatment

The good thing about Wilson’s disease is that it’s completely treatable. With early diagnosis and treatment, there are higher chances of living a healthy life. Also, to maintain safe level of copper in the body, lifetime treatment is required.

  • Chelation therapy drugs include penicillamine and trientine. These drugs are used to bind copper with its components for increased urinary excretion. [6]
  • Zinc aids in the Wilson’s disease treatment by preventing the copper absorption in the intestinal tract. Also, it stops copper from reaccumulating. It has fewer side effects but slower to take effect compared to chelation therapy drugs [6]. It is used for the treatment of the patients who cannot tolerate strong treatments and as initial treatment for pregnant women [3].
  • Maintenance therapy is started when the condition of the patient improved and the tests revealed reduction of the copper to safe level. This involves the use of zinc plus low dosage of penicillamine and trientine. Throughout the therapy, blood and urine tests are conducted to monitor copper levels. [3]
  • Diet modification with reduced copper intake is recommended for patients with Wilson’s disease. Foods such as shellfish, mushrooms, liver, nuts, and chocolate should be avoided. Water ingested should also be tested for presence of copper. Multivitamins is not advised as well for these patients. Lastly, alcohol ingestion is avoided, especially for those with chronic liver disease. [3]
  • Liver transplant is advised by the doctor when liver damage is extensive. This procedure surgically removes the diseased liver and replaces it with a healthy liver from a donor. The liver transplant may come from a donor who have died or a family member who donated a portion.[2]


Points to Consider

For those who have been experiencing the signs and symptoms of Wilson’s disease, it is a must to immediately consult a doctor. Remember, early diagnosis and treatment is the key to living a healthier and longer life.

Wilson’s disease is completely treatable. Do not waste a moment hesitating to seek medical attention. This is a condition which may lead to fatal conditions. It requires lifetime treatment for the patients.

Also, if anyone in the family has a history of this disease, consider undergoing gene screening to detect for presence of Wilson’s disease as early as possible. Be ready for genetic counseling as well.

Families with loved ones who are diagnosed with the disease can find different organizations that can support them through the entire journey of fighting the symptoms brought by Wilson’s disease.



1. http://www.liverfoundation.org/abouttheliver/info/wilson/

2. http://www.mayoclinic.com/health/wilsons-disease/DS00411

 3. http://patients.gi.org/topics/wilson-disease/

 4. http://www.mayoclinic.com/health/wilsons-disease/DS00411/DSECTION=tests-and-diagnosis

 5. http://www.patient.co.uk/health/wilsons-disease

 6. http://www.wilsonsdisease.org/wilson-disease/wilsondisease-treatment.php


  1. I don’t understand how the gene gets past on. Like from the chart, it seems like a 1 in 4 chance will effect the family if two people are carrying said gene. At the same time, can’t this be altered by proper nutrition? I know plenty of DNA and issues in the cells can be corrected in the womb if you do them right, like allowing the fetus to get everything it needs to grow into a healthy baby with healthy genes.


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