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Wilson syndrome: a comprehensive guide

Wilson syndrome, a rare genetic disorder that affects copper metabolism, is often misunderstood and misdiagnosed. This condition, although manageable when detected early, can have serious consequences if left untreated. The goal of this post is to provide a comprehensive overview of Wilson syndrome, including symptoms, diagnosis, treatment options, and the importance of awareness of this condition.

Wilson's disease is a rare genetic disorder that affects approximately 1 in 30,000 to 1 in 40,000 people worldwide. The condition is inherited in an autosomal recessive manner, which means that both parents must be carriers of the mutated gene for a child to develop the disease. Although the incidence of Wilson's disease can vary between different populations, it generally remains a rare condition worldwide.


A. Definition and explanation of the disorder

Wilson syndrome, also known as hepato-endocrine degeneration, is a rare inherited disorder characterized by the accumulation of copper in the body, particularly in the liver and brain. Excessive copper accumulation leads to tissue damage and various neurological and psychiatric symptoms. This condition occurs due to mutations in the ATP7B gene, which is responsible for the production of a protein that helps regulate the distribution and excretion of copper in the body.

B. The role of copper in the body

Copper is an essential trace element that plays a critical role in various bodily functions, such as the formation of red blood cells, the maintenance of nerve cells and the development of connective tissues. In healthy individuals, excess copper is eliminated through the liver; however, in people with Wilson syndrome, the mutated ATP7B gene blocks the body's ability to eliminate excess copper, leading to a build-up of toxic substances to a life-threatening level. 

C. Genetic factors that contribute to Wilson syndrome

Wilson's disease is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Parents who carry one mutated gene are called carriers and usually do not show signs or symptoms. However, they have a 25% chance of having a child with Wilson syndrome if both parents are carriers. 

Symptoms and diagnosis of Wilson's disease

A. Early signs and symptoms to look out for

The signs and symptoms of Wilson syndrome can vary significantly between affected individuals and often begin to appear between the ages of 6 and 45. Early symptoms may include:

  • Fatigue and weakness
  • Jaundice (yellowing of the skin and eyes)
  • Abdominal pain and swelling
  • Pain and stiffness in the joints
  • Unexplained weight loss

Most initially have mild cognitive decline and clumsiness, as well as behavioural changes. As the condition progresses, more severe neurological and psychiatric symptoms may develop, such as

  • Terror
  • Difficulty in speaking and swallowing
  • Unsteady gait
  • Changes in personality
  • Depression and anxiety

About half of people with Wilson's disease have neurological or psychiatric problems. 

B. The evolution of Wilson syndrome

If left untreated, Wilson's disease can lead to severe liver damage, including cirrhosis and liver failure. In addition, excessive copper accumulation in the brain can lead to debilitating neurological symptoms, which may become irreversible over time. Early diagnosis and treatment is vital to prevent or minimize these complications.

C. Diagnostic tests and procedures

The diagnosis of Wilson syndrome can be challenging because of its diverse symptoms and rarity. However, several diagnostic tests and procedures can help confirm the diagnosis, including:

Blood tests: These tests measure the levels of copper and keraloplasmin (a copper-binding protein) in the blood. Decreased levels of ceruloplasmin and increased levels of free copper are indicative of Wilson syndrome.

24-hour urine copper test: This test measures the amount of copper excreted in the urine over a 24-hour period. Elevated urinary copper levels are consistent with Wilson's syndrome.

Liver biopsy: A small sample of liver tissue is taken and tested for the presence of excess copper.

Genetic testing: This test identifies mutations in the ATP7B gene, confirming the diagnosis in individuals with a family history or suggestive clinical picture. 

Can I inherit Wilson's disease?

You can inherit Wilson's disease if both your parents are carriers of the ATP7B mutated gene. Wilson's disease is an autosomal recessive disorder, which means that you must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents are carriers, each has one mutated gene and one normal gene. They usually do not show any signs or symptoms of the disease.

For every child of carrier parents, there is one:

  • 25% chance of inheriting two mutated genes and developing Wilson's disease
  • 50% chance of inheriting one mutated gene, making the child a carrier like the parents
  • 25% chance of inheriting no mutated gene and being unaffected

Treatment and management for Wilson's disease 

A. Conventional treatment options

1. Medications: The main treatment for Wilson syndrome involves medications called chelating agents, such as penicillamine or trentine. These drugs bind copper, facilitating its elimination from the body through the urine. In some cases, zinc acetate may also be prescribed to prevent the absorption of copper from the diet.

2. Surgical procedures: In severe cases where the liver damage is extensive, a liver transplant may be needed. This procedure involves replacing the damaged liver with a healthy liver from a donor.

B. Lifestyle changes to support treatment

Diet: A low-copper diet is recommended for people with Wilson's disease. Foods high in copper, such as shellfish, liver, nuts, chocolate and mushrooms, should be limited or avoided. A registered dietitian can provide personalised guidance on appropriate dietary modifications.

Exercise: Regular physical activity can help improve overall health and well-being. However, people with Wilson syndrome should consult with their healthcare provider before beginning any exercise program to ensure that it is safe and appropriate.

Stress management: Effective stress management techniques, such as mindfulness meditation, yoga or deep breathing exercises, can help relieve stress and improve emotional well-being. 

C. Watch

Regular follow-up meetings with health care providers are essential for people with Wilson's disease. These appointments allow for ongoing monitoring of copper levels, liver function, and neurological symptoms to ensure that treatment is effective and to make necessary adjustments as needed. 

What should I avoid eating with Wilson's disease?

 If you have Wilson's disease, it is important to follow a low copper diet to prevent further copper accumulation in your body. Here are some foods to limit or avoid because of their high copper content:

  • Liver and organ meats: these are particularly high in copper and should be avoided.

  • Shellfish: Oysters, mussels, clams, lobster and crab are high in copper and should be limited or avoided.

  • Nuts and seeds: Almonds, cashews, sunflower seeds and peanuts contain significant amounts of copper. Choose low-copper alternatives, such as walnuts or pumpkin seeds, in moderation.

  • Chocolate: Cocoa powder and chocolate contain significant amounts of copper, so limit your intake or choose low-copper alternatives.

  • Dried fruit: Prunes, raisins and apricots are high in copper. Choose fresh fruit such as apples, bananas and berries instead.

  • Go for whole grains and bran: These can be high in copper. Cereals may be high in copper.

Living with Wilson's syndrome.

wilson syndrome 

A. Emotional and psychological challenges

Living with Wilson syndrome can be challenging as it can affect multiple aspects of a person's life, including their physical, emotional and social well-being. It is important to address any feelings of anxiety, depression or isolation that may arise due to the condition. Mental health professionals, such as therapists or counsellors, can provide valuable support and resources to address these challenges.

B. Establishing a support network

A strong support network is vital for individuals living with Wilson syndrome. Connecting with friends, family members, health professionals, and support groups can provide emotional support, practical advice, and a sense of community. Online forums and social networking platforms can also help individuals connect with others who share similar experiences.

C. Inspiring stories from people living with the condition

Many people with Wilson syndrome have overcome the challenges associated with the disorder and live fulfilling lives. These stories can serve as a source of hope and inspiration for others facing similar obstacles. Learning from the experiences of others can help individuals develop effective coping strategies and maintain a positive outlook.

Wilson syndrome is a rare and complex genetic disorder that requires early diagnosis and prompt treatment to prevent serious complications. By understanding the symptoms, diagnosis and treatment options of the condition, affected individuals and their families can better manage the disorder and maintain a high quality of life. Raising awareness and supporting research efforts are critical steps in improving the lives of those affected by Wilson syndrome.

Original content from the Upbility writing team. Reproduction of this article, in whole or in part, without attribution to the publisher is prohibited.

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