According to the National Human Genome Research Institute, Wilson’s Disease is a “rare genetic condition that affects one in 30,000 people.” That is approximately 0.00333% of the total 30,000 population! Wilson’s disease is a genetic disorder that interferes with the body’s natural ability to expel copper. Therefore, an individual would retain too much copper. The copper will accumulate within vital organs such as the liver, brain, and lungs etc. This can result in organ failure or diseases, neurological problems, and psychiatric issues. Evidently, Wilson’s disease is a life-threatening issue.

Firstly, readers must understand the importance of copper. Copper is a mineral essential for the human body. For example, healthy bones, nerves, collagen, and melanin are all aided by the mineral copper. Typically, through the consumption of food, humans allow for copper to enter their system. Additionally, the liver produces bile that will remove excessive copper from the body when necessary (Mayo Clinic 2023). The key issue with Wilson’s disease is not that no bile is produced. Rather, the “liver of a person who has Wilson's disease does not release copper into bile as it should. Instead, the copper builds up and causes damage to the liver” and other essential organs (Cincinnati Children’s 2024).

Symptoms of Wilson’s disease typically appear between the ages of six and twenty years of age. The most notable symptom is the Kayser-Fleischer ring, which is a rusty (copper or golden) ring that appears around the iris of the eyes (Mayo Clinic 2023). The Kayser-Fleischer ring appears because there is extra copper in the eyes. Additionally, other symptoms include: jaundice, fluid buildup in legs/stomach, uncontrolled movements/muscle stiffness, and problems with physical coordination.

Wilson’s disease is inherited genetically. A healthy ATP7B gene is responsible for removing copper from the body in a normal way. However, a pathogenic mutation within the gene will interrupt the process, which leads to the inability to expel copper (Yale Medicine 2025). The disease is present only when two parents both carry the flawed ATP7B gene. There are three scenarios for a child whose parent(s) may carry the gene: 1. The child will inherit both healthy genes from the parents, not being affected at all. 2. The child will receive one flawed ATP7B gene from the parent, becoming a “carrier” and not show any symptoms of the disorder. 3. The child inherits 2 flawed ATP7B genes and will develop this disorder. The largest indicator of the disease is family history. However, the defective gene can skip a generation (Healthline 2023). Therefore, genetic testing is a crucial method to identify this disorder.

There is no way to directly prevent Wilson’s disease. However, medical professionals recommend early testing, diagnosis, and treatment that can help prevent and delay the disorder. One of the crucial tests includes blood and urine tests. Blood and urine tests allow doctors to be able to monitor liver function. Additionally, doctors can analyze the ceruloplasmin protein that is responsible for binding copper to blood cells and check for copper levels in the blood. Another type of test is eye exams, specifically slit-lamp exams, that check for the Kayser-Fleischer ring. Another type of exam is a liver biopsy, which is where doctors take a sample of liver tissue for testing. Laboratory tests will be initiated to check for abnormal activities in the liver cells. Lastly, there is genetic testing, which involves a blood test to locate the genetic changes causing Wilson’s Disease. If the changed genes are identified, an individual’s sibling may be tested too. This allows individuals to start treatment before symptoms occur.

Medicated treatments are lifelong and mainly include copper chelating agents. The medication will attach to copper, motivating organs to release the copper into the bloodstream. Therefore, the kidneys can filter the material and release it from the body (in the form of urine). One of the main medications is penicillamine. Penicillamine is used for copper chelating, but it has major side effects. For example, side effects include skin and kidney problems, and worsened nervous system symptoms. The most notable side effect is bone marrow suppression, which causes patients to not produce enough red blood cells and platelets. Lastly, the medication will hinder the efficiency of vitamin B6. This causes patients to have to take extra vitamin B6 supplements. Another medication is Trientine, which works very similarly to Penicillamine and has fewer side effects. Trientine is given to patients who do not respond or cannot tolerate Penicillamine (Science Direct 2016). Lastly, another medication used to combat Wilson’s disease is Zinc acetate. This medication stops the body from taking in any copper from food. Zinc acetate is typically taken after the intake of Penicillamine or Trientine to stop copper from building up again. Additionally, it is the third option for individuals who cannot take/do not respond to Penicillamine and Trientine. A side effect of Zinc acetate is upset stomachs.

In more extreme cases, some Wilson’s disease patients may have severe liver damage that requires a liver transplant. A donor provides a healthier liver that replaces the damaged one. The liver may come from donors who have died or a living donor, such as a family member (Mayo Clinic 2023). These transplants are very effective, as patients will be able to have normal liver functions and have proper copper metabolism. However, patients may need to take lifelong immunosuppressants that prevent the body from rejecting the new organ.

Depending on severity, patients will also have to look into at-home remedies such as a controlled diet with limited amounts of copper. Many patients would have a general copper intake limit of 1mg per day. Some foods with high amounts of copper include: Nuts, chocolate, shellfish, and mushrooms. Doctors will advise patients to stay away from such foods. In contrast, some foods with lower amounts of copper include: broccoli, eggs, coffee, and white pasta. Additionally, patients may have to look into the copper levels in their tap water at home and take necessary measures to lower the copper levels if necessary (Wilson Disease Association 2024).

Currently, there is no cure for Wilson’s disease, which is why patients rely mainly on lifestyle management and medical treatments to maintain a normal life. However, there is still plenty of research being done in order for a better understanding and potential cure for the disease. According to an interview with Michael Schilsky, gastroenterologist and hepatologist at Yale Medicine, researchers have been looking into “genetically modifying the liver so it can produce a protein that is missing in patients with Wilson disease. The ATP7B gene provides instructions for making this protein, a copper-transporting ATPase type 2, which functions as a pump that removes copper from the body via biliary excretion.” This methodology is being done through an injection of a “dead virus” which will invade the liver cell and genetically modify the cell. As of April 2025, clinical trials are underway. Additionally, Schilsky briefly mentions gene repair, which combines with gene editing to restore the function of the liver cells (Yale Medicine 2025).

In conclusion, Wilson’s disease is a life-threatening, rare genetic disorder that prevents the body from expelling copper. Patients will inherit the disease if they inherit two mutated ATP7B genes from their parents. Additionally, different tests such as blood, eye, and genetic testing are crucial for early diagnosis. With the help of early diagnosis, patients can start treatment such as Penicillamine, Trientine, or Zinc acetate paired with lifestyle management to maintain a normal life. Despite Wilson’s disease having no cure, with more research being conducted, doctors will be able to better understand the disease and potentially discover a cure in the near future.

References

• Cincinnati Children’s Hospital Medical Center. (2024). Wilson’s disease.
• Healthline. (2023). Wilson’s disease: Symptoms, diagnosis, and treatment.
• Mayo Clinic. (2023). Wilson’s disease – Symptoms and causes.
• ScienceDirect. (2016). Trientine – Topics in Nursing and Health Professions.
• UChicago Medicine. (2025). Wilson’s disease.
• Wilson’s Disease Association. (2024). Copper conscious eating.
• Yale Medicine. (2025). A Cure for Wilson Disease? A World Expert Eyes Gene Therapy.