What is Wilson?
Understanding Wilson's Disease
Wilson's disease is a rare genetic disease that affects the way the body manages copper, an essential trace element. In an affected person, copper accumulates mainly in the liver and brain, causing severe complications if no treatment is followed.
This hereditary disease affects approximately 1 in 30,000 people worldwide and nearly 1,500 patients are recorded in France. Early diagnosis and treatment allow affected people to lead normal lives.
The causes and origin of Wilson's disease
Wilson's disease is caused by a mutation in the ATP7B gene, located on chromosome 13. This gene plays a key role in the elimination of excess copper by the liver.
In an affected patient:
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The liver no longer eliminates copper properly via the bile.
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Excess copper gradually accumulates in the body.
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This causes damage to the liver, then to other organs such as the brain, kidneys and eyes.
The transmission of this disease is autosomal recessive, which means that both parents must be carriers of the mutated gene for a child to be affected.
Symptoms of Wilson's disease
The first signs of the disease often appear between the ages of 5 and 35, but can occur later. They vary depending on the organ primarily affected.
1. Liver symptoms
The liver is the organ most affected at the onset of the disease:
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Chronic fatigue, nausea
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Increased liver volume (hepatomegaly)
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Jaundice (yellowing of the eyes and skin)
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Cirrhosis, ascites (accumulation of abdominal fluid)
Without treatment, the progression can lead to severe liver failure requiring a transplant.
2. Neurological and psychiatric symptoms
When copper accumulates in the brain, it causes:
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Tremors, muscle stiffness, involuntary movements
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Speech and swallowing problems
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Coordination and balance problems
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Behavioral problems: anxiety, irritability, aggression, depression
A distinctive sign is the Kayser-Fleischer ring, a golden pigmentation at the edge of the cornea visible on ophthalmological examination.
Diagnosis: How to detect Wilson's disease?
Early diagnosis is essential to avoid complications. Several tests are used:
Biological tests: copper dosage
Ceruloplasmin: protein transporting copper – often low
Total blood copper: sometimes low
Toxic free copper (FFC): high
24-hour urinary copper: very high in affected patients
Additional tests
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Ophthalmologic examination (slit lamp) to detect the Kayser-Fleischer ring
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Brain MRI to visualize copper deposits
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Genetic test to identify the ATP7B mutation
Treatments and management
Wilson's disease cannot be cured, but lifelong treatment can control copper accumulation and prevent complications.
1. Copper chelating drugs
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D-Penicillamine (Trolovol®): eliminates copper through urine
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Trientine (Cufence®, Cuprior®): alternative to D-Penicillamine
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Zinc acetate (Wilzin®): blocks the intestinal absorption of copper
These treatments must be taken for life, even in the absence of symptoms.
2. Diet low in copper
🚫 To avoid: dark chocolate, shellfish, offal, nuts, seeds, mushrooms
✔️ To favor: lean meats, dairy products, fresh fruits (banana, apple)
3. Liver transplant
A liver transplant may be necessary in case of severe liver failure.
Living with Wilson's disease: Advice and support
Although chronic, Wilson's disease can be controlled with regular monitoring.
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Medical monitoring: regular blood and urine tests
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Neurological monitoring if brain damage
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Psychological support to manage the emotional impact
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Dietary support to follow an appropriate diet
FAQ: Answers to frequently asked questions
❓ Is Wilson's disease contagious?
➡️ No, it is genetic and cannot be transmitted from one person to another.
❓ Can Wilson's disease be cured?
➡️ There is no cure, but lifelong treatment allows you to live normally.
❓ Is this site affiliated with a hospital?
➡️ No, this site is independent and aims to inform and support patients and caregivers.
❓ Where can I buy the book "Recettes Façon Wilson"?
➡️ It is available through partner hospitals.
Conclusion
Wilson's disease is a rare condition, but early treatment and appropriate follow-up allow you to live normally. This site aims to inform, support patients and their families, and share useful resources, including adapted recipes.
For more information, visit the Wilson Rare Disease Reference Center:
“I started feeling extremely tired when I was about 22. I thought it was due to the stress of my studies, but the symptoms got worse: hand tremors, difficulty speaking, and a feeling of constant brain fog. I consulted several doctors who referred me for psychological counseling, thinking it was stress.
It was only at the age of 26, after an emergency hospitalization for unexplained jaundice, that the diagnosis was made: Wilson's disease, advanced stage.
I had to learn to live with daily treatment and a strict diet. Today, thanks to copper chelators and the support of my loved ones, my life is stabilized. What I remember is that an early diagnosis changes everything. If I had been treated earlier, I would have avoided certain after-effects."
Sarah, diagnosed at 26 after years of medical wandering
Myths and misconceptions about Wilson's disease
6 Myths About Wilson's Disease
Introduction: Why this section? Wilson disease is a rare and little-known condition, which often leads to misunderstandings and preconceived ideas. Many patients and caregivers receive incorrect information that can delay diagnosis or complicate the management of the disease. 🔎 Let's debunk the main myths about Wilson disease and restore the truth! ❌ MYTH 1: "Wilson disease only affects the liver" ➡️ FALSE! Although the liver is the organ most affected initially, Wilson disease also affects the brain, kidneys, eyes and other organs. ✔️ In some patients, the first symptoms are neurological: tremors, speech disorders, muscle stiffness. ✔️ There may also be psychiatric disorders: anxiety, irritability, depression, personality changes. ✔️ Other rarer symptoms exist: heart disease and kidney problems. 💡 Remember: Even in the absence of apparent liver problems, the disease can be present in other forms. ❌ MYTH 2: "If you don't see a Kayser-Fleischer ring, you don't have the disease" ➡️ FALSE! The Kayser-Fleischer ring is a copper deposit in the cornea, visible on ophthalmological examination. It is very common in patients with neurological damage, but it is not always present in those with only liver damage. ✔️ About 50% of patients with Wilson's disease do NOT have a Kayser-Fleischer ring. ✔️ Its absence does not mean that you don't have the disease! 💡 Remember: Diagnosis is based on several medical tests, not just an eye exam. ❌ MYTH 3: "Wilson's disease can be cured" ➡️ FALSE! Wilson's disease never goes away, but it can be perfectly controlled with treatment. ✔️ Copper chelating drugs help eliminate excess copper. ✔️ A suitable diet helps limit the accumulation of copper in the body. ✔️ Regular medical monitoring ensures effective control of the disease. 💡 Remember: It is essential to take your treatment for life, even if you feel well. ❌ MYTH 4: "A diet without copper is sufficient as treatment" ➡️ FALSE! Diet plays an important role, but it cannot replace drug treatments. ✔️ A diet low in copper is recommended, but it is not enough to eliminate all the copper accumulated in the body. ✔️ Copper chelators (D-Penicillamine, Trientine) are essential to eliminate excess copper. 💡 Remember: Diet helps, but it does not replace medical treatment. ❌ MYTH 5: "Only adults can get Wilson's disease" ➡️ FALSE! Wilson's disease can be detected in childhood. ✔️ Symptoms usually appear between the ages of 5 and 35, but earlier cases exist. ✔️ Screening of siblings of an affected patient is strongly recommended. 💡 Remember: Early diagnosis allows for better control of the disease and avoids complications. ❌ MYTH 6: "If my tests are normal today, I can stop my treatment" ➡️ FALSE AND DANGEROUS! Even if the tests show a normalization of copper levels, this does not mean that the disease has disappeared. ✔️ Stopping treatment leads to a rapid re-accumulation of copper in the body. ✔️ This can cause a severe relapse, or even irreversible liver or neurological damage. 💡 Remember: The treatment must be taken for life, even if the laboratory results are normal
Food and adapted recipes
Foods to favor (low in copper)
These foods can be consumed without restriction as part of an adapted diet:
🥦 Vegetables: potatoes, carrots, zucchini, leeks, cucumbers
🍏 Fruits: apples, bananas, pears, oranges, strawberries, watermelons
🍚 Starchy foods: white rice, white pasta, semolina, white bread
🥩 Meats & Proteins: Chicken, Turkey, Lean Beef, Eggs, Dairy
🥛 Dairy products: milk, plain yogurt, fromage blanc
🚫 Foods to avoid (rich in copper)
These foods are particularly rich in copper and should be strictly limited:
🦐 Seafood: oysters, mussels, shrimp, crab
🌰 Nuts & seeds: hazelnuts, almonds, walnuts, sunflower seeds
🍫 Chocolate & cocoa: dark chocolate, cocoa powder
🍄 Mushrooms: especially button and shiitake mushrooms
👩🔬 Offal & liver: beef liver, poultry liver and other offal
🥑 Legumes: lentils, chickpeas, red beans
💡 Beware of mineral waters! Some bottled waters contain trace amounts of copper. It is advisable to check the label and opt for waters with a low mineral content.
Wilson's disease research: where are we now?
Why talk about medical advances?
Wilson's disease is a rare genetic condition, but research continues to evolve to better understand the disease, develop new treatments and improve the daily lives of patients.
What are the latest scientific advances?
What hopes for the future?
Here is an overview of the progress currently underway.
1. Understanding Wilson's Disease Research
Scientists are working on three major axes:
✔️ Better diagnosis of the disease → Development of more precise genetic tests and early detection tools.
✔️ Improving current treatments → New formulations of copper chelators for greater effectiveness and fewer side effects.
✔️ Explore new treatments → Innovative approaches such as gene therapy and cell transplantation.
Research is carried out mainly by:
📍 The Wilson Rare Disease Reference Center (France)
📍 Yale University (USA)
📍 The Pasteur Institute (France)
2. New treatments under study
🟢 1. More effective and better tolerated chelating drugs
➡️ Current copper chelators (D-Penicillamine, Trientine) are effective but can cause serious side effects.
➡️ New molecules are being developed to offer better tolerance and faster action.
💡 Example: A new and improved trientine, currently in phase 3 testing, may be less toxic to the kidneys and liver.
🟢 2. Gene therapy: a future revolution?
➡️ Objective: Directly correct the defective ATP7B gene to restore the liver's ability to eliminate copper.
➡️ How does it work? A healthy version of the gene is injected into the body via a harmless viral vector.
💡 Currently in the experimental phase, but preliminary results are very promising.
🟢 3. Cell transplantation: an alternative to liver transplantation?
➡️ Rather than replacing the entire liver, researchers are testing the implantation of healthy cells capable of metabolizing copper.
➡️ Advantage: A potential solution for patients suffering from severe liver failure, without going through a complete transplant.
💡 Still in the preclinical phase, but could revolutionize the management of advanced forms of the disease.
3. How to participate in the research?
Some patients can contribute to clinical studies by testing new treatments under medical supervision.
📌 Where can I find ongoing clinical trials?
💡 Who can participate?
✅ Patients diagnosed with an advanced form or resistant to current treatments.
✅ Patients with a specific mutation of the ATP7B gene.
✅ Volunteer patients wishing to help research (with strict medical monitoring).