Wilson’s disease is a rare condition that many people are born with. It makes the body pile up too much copper. While a bit of copper is good for you – it helps make red blood cells and gives your nerves energy – too much can be harmful. It can hurt essential body parts, like the liver and brain.
About one in 30,000 people around the world have Wilson’s disease. Anyone can get it, but people from Europe are more likely to have it. Symptoms usually start showing between 5 and 35 years old, but they can start sooner or later too.
Living with Wilson’s disease means keeping a close eye on health to avoid serious issues and live a comfortable life. The main goal is to lower the amount of copper in your body and stop it from building up.
This can be done with a diet low in copper and medication that gets rid of copper or stops your body from absorbing it. Sometimes, if a patient’s liver is really badly hurt, they might need a liver transplant.
In this article, we’ll talk more about what Wilson’s disease is, how it changes your body, how to know if you have it, how to treat it, and how to live well with it.
What is Wilson’s Disease?
There is a protein that moves extra copper into something called bile. The body uses bile to help break down fats and then either get rid of them in your poop or absorb it back into your body. If you have Wilson’s disease, you either don’t have this protein, or it doesn’t work right, which causes copper to build up in your liver and other parts of your body.
Copper starts building up from the time you’re born. It affects the liver first since your liver is supposed to store a little bit of copper for later.
When your liver gets too full of copper, it doesn’t work right and starts releasing copper into your blood. This extra copper then goes to other parts of your body, like your brain, eyes, kidneys, and bones.
Is Wilson’s Disease Genetic?
Wilson disease is a genetic condition that stems from mutations in the ATP7B gene and follows an autosomal recessive inheritance pattern. For a child to be affected, both parents must contribute the mutated gene. Carriers, who have only one abnormal gene, typically show no symptoms. This genetic pattern requires both parents to be carriers for their child to have a 25% chance of developing the disease.
Wilson’s Disease Symptoms and Diagnosis
What symptoms people have from Wilson’s disease depends on where in the body the copper builds up and how much of it there is.
Some people might not have symptoms until they’re adults, while others could start having liver or nerve problems when they’re young.
Common signs of Wilson’s disease are:
- Legs, belly, or both getting swollen because your body is holding onto too much fluid
- Skin or eyes turning yellow (jaundice) because your liver is damaged
- Feeling tired, weak, or not hungry because your liver isn’t working right
- Throwing up blood or having black poop because there’s bleeding in your digestive system
- Moving in unusual ways like shaking, being stiff, slurring your words, or having trouble swallowing because your brain is damaged
- Changing your personality, like getting easily annoyed, feeling sad, being anxious, or having psychosis because your brain is damaged
- Seeing brown rings around your eye’s corneas (Kayser-Fleischer rings) because there’s copper built up
Figuring out if someone has Wilson’s disease can be hard because the symptoms could be a sign of something else like chronic liver disease, Parkinson’s disease, or multiple sclerosis. Usually, doctors will do a few different tests to be sure, like:
- Blood tests to see how much copper and ceruloplasmin (a protein that attaches to copper) is in blood
- Pee tests to see how much copper the body is getting rid of in urine
- Liver biopsy to look at how much copper is in liver tissue
- Eye exam to find Kayser-Fleischer rings with a special microscope (slit lamp)
- Genetic testing to see if the ATP7B gene is mutated
How Wilson’s Disease Affects Your Life
Wilson’s disease can change a patient’s life in a lot of ways. It can hurt physical, mental, and emotional health. Affected people might face problems like:
- Liver failure or getting cancer because of lasting liver damage
- Kidney problems because of too much copper in urine
- Bones issues like osteoporosis or fractures because there is not enough copper in body
- Nerve problems like seizures, dementia, or paralysis due to brain damage
- Mental health issues like feeling sad, anxious, or thinking about suicide
- Social issues like feeling isolated, judged, or discriminated against because of physical or mental challenges
Everyday activities like work, school, hobbies, or relationships can be harder when living with Wilson’s disease.
They have to eat a strict diet, take medication often, get lots of tests and see the doctor regularly, and deal with side effects from their treatment.
Patients also need help from family, friends, healthcare providers, or support groups to manage the emotional and practical parts of the disease.
Managing Wilson’s Disease through Diet
One of the main ways to tackle Wilson’s disease is to eat food that has less copper. This helps to cut down the amount of copper that gets into your body and stops more copper from piling up in your organs.
A diet low in copper can also make medicines that are used to get rid of extra copper in the body work better.
Understanding the copper content in food
Copper is a tiny amount of mineral that naturally exists in many foods. Some foods have more copper than others, and people with Wilson’s disease should avoid or limit these.
Foods high in copper to stay away from
Here are some foods that have a lot of copper and people with Wilson’s disease should stay away from:
- Seafood like oysters, clams, mussels, lobster, and crab
- Liver and other parts of animals
- Nuts and seeds like peanuts, cashews, sunflower seeds, and sesame seeds
- Chocolate and products made from cocoa
- Dry fruits like raisins, prunes, and apricots
- Products from soy like tofu, soy milk, and soy sauce
- Cereals made from bran and whole grains
Foods low in copper to have
Here are some foods that have less copper and can be part of a diet low in copper:
- Lean meats like chicken, turkey, pork, and beef
- Dairy products like milk, cheese, and yogurt
- Fruits like apples, bananas, oranges, and berries
- Vegetables like carrots, broccoli, cauliflower, and lettuce
- Rice, pasta, and bread made from refined flour
Tips to keep a balanced low-copper diet
Keeping a diet low in copper can be hard, but there are some tips that can make it simpler and more fun:
- Look at food labels closely and stay away from foods that have copper or copper-related ingredients
- Use cookware and utensils made of stainless steel or glass instead of copper ones
- Drink water that’s filtered or bottled instead of tap water that may have copper pipes
- Stay away from vitamins or supplements that have copper or ask your doctor before taking them
- Eat a mix of foods from different groups to make sure you get other nutrients
Role of diet in managing Wilson’s disease
What you eat plays a big role in dealing with Wilson’s disease along with taking medicine and regular check-ups. By keeping a diet low in copper,
How diet helps manage symptoms
A diet low in copper can help manage the symptoms of Wilson’s disease by cutting down the amount of copper that gets into your body and stopping more copper from piling up in your organs.
This can help prevent or lessen liver damage, nerve issues, and mental health troubles caused by too much copper.
Effects on how the disease moves forward
A diet low in copper can also help slow down or stop Wilson’s disease from getting worse by preventing more damage to the organs from too much copper. This can improve the lives of people with Wilson’s disease and help them live longer.
Chelation Therapy for Wilson’s Disease
Chelation therapy is one of the main ways to treat Wilson’s disease. Chelation therapy is a type of treatment that uses special substances called chelating agents. These agents can grab toxic metals or minerals in the body.
They like to stick to certain metals, like copper, iron, lead, and mercury. They can make a tight bond with these metals and make them dissolve in water, so your kidneys can get rid of them.
Chelation therapy is helpful for conditions where there’s too much metal in the body, like Wilson’s disease, hemochromatosis, and lead poisoning. It can also help prevent or treat problems caused by these diseases, like liver cirrhosis, brain damage, or heart failure.
How chelation therapy works in Wilson’s Disease
In Wilson’s disease, the body can’t control how much copper it takes in from food and keeps in its tissues. This leads to copper building up in organs like the liver and brain, where it can cause swelling, scarring, and cell death. If Wilson’s disease isn’t treated, it can cause liver failure, neurological problems, mental health disorders, and even death.
Chelation therapy helps by lowering the amount of copper in the body and stopping further harm to the organs. It gets rid of copper in two steps:
- The chelating agent grabs onto copper in the blood and tissues and forms a complex that dissolves better than copper on its own.
- The kidneys filter this complex and get rid of it when you pee.
How well chelation therapy works can depend on many things, like the type and amount of chelating agent, how severe and long-lasting the copper overload is, and whether the patient follows the treatment and tolerates it.
In general, chelation therapy can help improve or keep stable the symptoms of Wilson’s disease in most patients. However, some may need to get treated their whole lives to avoid the disease returning or worsening.
Different types of chelation therapies
There are different types of chelating agents that can help with Wilson’s disease. The most commonly used ones are:
- D-penicillamine: This is a man-made version of penicillin that really likes copper. It’s usually taken by mouth once or twice a day. D-penicillamine can lower the amount of copper in the body and help liver and brain function in most people with Wilson’s disease. But, it can also cause side effects like skin rashes, fever, joint pain, kidney problems, and blood disorders. Some people might become allergic to D-penicillamine or it might stop working over time.
- Trientine: This is another man-made compound that can grab onto copper and other metals. It’s also usually taken by mouth once or twice a day. Trientine can be a good alternative to D-penicillamine for people who can’t handle its side effects or for whom it doesn’t work. Trientine can lower the amount of copper in the body and help the liver and brain function in most people with Wilson’s disease. But it can also cause side effects like feeling sick, throwing up, diarrhea, and belly pain. It might also interact with other medications or supplements that contain iron or zinc.
- Dimercaprol: This is an organic compound first made to treat arsenic poisoning during World War II. It can also grab onto copper and other metals and get rid of them in urine. It’s usually given by injection into a muscle every few hours for several days. Dimercaprol can help patients with serious or sudden symptoms of Wilson’s disease who can’t take chelating agents by mouth. But, it can also cause side effects like pain at the injection site, headaches, fever, and high blood pressure. It might also interact with other medications or supplements that contain iron or zinc.
How chelation therapy affects a person’s life
Chelation therapy can greatly change the life of someone with Wilson’s disease. On the one hand, it can improve or maintain their physical and mental health by lowering the amount of copper in the body and stopping further harm to the organs.
On the other hand, chelation therapy can also cause side effects, problems, or annoyances that can affect a person’s well-being and satisfaction.
Some of the things that might change a person’s life while getting chelation therapy are:
- The frequency and length of treatment: Chelation therapy might require daily or regular taking of medicine or getting injections for months or years. This might interfere with a person’s daily routine, work, school, or social life. It might also be expensive or burdensome for the patient and their family.
- Following the treatment: Chelation therapy requires regular monitoring of copper levels, liver function, kidney function, blood counts, etc. Patients need regular blood and urine tests to ensure the treatment is working and safe. Patients also need to follow a special diet and avoid foods or supplements high in copper, iron, or zinc. These measures can be hard or inconvenient for some people, especially children or teenagers.
- Tolerance and response to treatment: Chelation therapy might cause side effects that can be mild to severe. Some people might become allergic to certain chelating agents over time. Some people might not get better with chelation therapy and might need extra treatments, like a liver transplant.
- The mental and emotional effects of treatment: Chelation therapy might change a person’s self-esteem, confidence, mood, or outlook on life. Some people might feel different from others, alone or depressed because of their disease and treatment. Some people might feel anxious, scared, or uncertain about their future and what will happen to them.
So, chelation therapy can have both good and bad effects on the life of someone with Wilson’s disease. It’s important to give good information, education, counseling, and support to patients and their families to help them handle the ups and downs of chelation therapy.
Living with Wilson’s Disease: Personal Perspectives
The Patient’s Point of View
Living with Wilson’s disease as a patient is a journey filled with unique challenges. The symptoms of Wilson’s disease, which can range from physical difficulties like unsteady movements and trouble speaking to mental health issues like depression or anxiety, can impact every aspect of a person’s life.
For instance, a young person might find it hard to participate in normal activities like sports due to physical weakness or struggle to keep up in school due to cognitive difficulties.
The need for ongoing Wilson’s disease therapy, which may include taking medications regularly and sticking to a specific Wilson’s disease diet that is low in copper, adds another layer of complexity to daily life.
Additionally, coping with the knowledge that they have a lifelong condition that is rare and not well understood by many can also lead to feelings of isolation or frustration.
From a Caregiver’s Eyes
Being a caregiver for someone with Wilson’s disease is a role that requires immense compassion, patience, and resilience. It involves assisting the person with Wilson’s disease in managing their symptoms and ensuring they adhere to their prescribed treatment and diet plan.
Beyond these practical aspects, caregivers often provide emotional support, helping the patient cope with the psychological toll of living with a chronic illness.
They might need to navigate the healthcare system on behalf of the patient, liaising with different healthcare providers and possibly advocating for the best care.
One of the biggest challenges for caregivers can be balancing the demands of providing care with their own personal needs and responsibilities. They also have to grapple with the emotional impact of seeing a loved one struggle with the manifestations of Wilson’s disease.
The perspective of a Healthcare Provider
For a healthcare provider, managing Wilson’s disease presents a unique set of challenges and rewards. Due to the rarity of Wilson’s disease, it requires a good understanding of its genetic basis, as well as the specific physical and psychological symptoms it can cause.
To provide the best possible care, healthcare providers must stay updated with the latest research and advancements in Wilson’s disease therapy.
This can include everything from the development of new medications and innovative therapeutic strategies like gene therapy or stem cell therapy to novel diagnostic tools.
Part of treating and managing Wilson’s disease involves educating patients and their families about the disease and its management, including the critical role of diet in controlling symptoms.
Healthcare providers also work closely with patients to monitor their health over time, adjusting treatments as necessary and providing support and reassurance to patients and their families.
While it can be challenging to manage a complex disease like Wilson’s disease, there’s also a sense of reward that comes from helping patients maintain the highest quality of life possible and seeing improvements in their health and well-being over time.
Despite having effective treatments available for Wilson’s disease, there’s always scope for refining and innovating within this research area.
Latest Progress in Wilson’s Disease Research
Recent progress in Wilson’s disease research includes:
- Creating new ways to diagnose, like genetic testing, biomarkers, and imaging techniques that can identify Wilson’s disease earlier and more accurately.
- Uncovering new mutations in the ATP7B gene, which can help us understand the genetics of Wilson’s disease better.
- Exploring new mechanisms and pathways involved in how the body handles copper and what makes it toxic. This can help us understand how Wilson’s disease works and progresses.
- Looking at new ways to treat Wilson’s disease, like gene therapy, stem cell therapy, and nanomedicine. These could offer more effective and less invasive ways of managing Wilson’s disease.
Potential Future Treatment Options
Possible future treatments for Wilson’s disease include:
- Developing new drugs or forms of drugs that can improve how well existing chelating agents and zinc supplements work.
- Implementing personalized medicine, which can adapt the treatment to the individual patient’s genetic makeup, physical condition, and response.
- Setting up preventive measures like newborn screening, prenatal diagnosis, and carrier testing, which can help identify Wilson’s disease before any symptoms show up and prevent or delay any damage to organs.
Who is most likely to get Wilson’s disease?
Individuals most likely to get Wilson’s disease have both parents as carriers of the mutated ATP7B gene. It affects people of all ethnic backgrounds, with symptoms often appearing between ages 5 and 35.
What is the life expectancy for someone with Wilson’s disease?
With early diagnosis and proper treatment, individuals with Wilson’s disease can have a normal life expectancy. Treatment helps manage symptoms and prevent disease progression.
Does Wilson’s disease skip a generation?
Wilson’s disease may appear to ‘skip’ a generation, but this isn’t exactly what happens. Imagine two parents each carry one copy of the gene mutation but don’t have the disease themselves because you need two copies to be affected. They can still pass these genes to their children. If both parents pass their mutated gene to a child, that child will have Wilson’s disease. So, while parents might not show any signs, their child could get the disease, seeming like it ‘skipped’ them.
At what age is Wilson’s disease usually diagnosed?
Wilson’s disease is typically diagnosed in individuals between the ages of 5 and 35. Early detection is crucial for effective management of the disease.
Do both parents have to be carriers for Wilson’s disease?
Yes, for a child to be affected by Wilson’s disease, both parents must be carriers of the mutated ATP7B gene. Each child of carrier parents has a 25% chance of developing the disease.
What is the classic physical symptom of Wilson disease?
The classic physical symptom of Wilson’s disease is the Kayser-Fleischer ring, a copper-colored ring around the cornea of the eye, visible only through an eye examination.
What are the odds of getting Wilson’s disease?
The odds of getting Wilson’s disease are about 1 in 30,000 worldwide. With both parents as carriers, each child has a 25% chance of inheriting the disease.
What gender is Wilson’s disease most common in?
Wilson’s disease affects males and females equally, as the condition is related to an autosomal (not sex-linked) gene mutation.
Wilson’s disease is a rare inherited condition that results in an excess of copper in the body, causing damage to the liver and brain.
While it can be managed with medication and diet changes, it needs life-long monitoring and care. Living with Wilson’s disease can be challenging, but it can also be manageable with the proper support and care.
Dr. Sumeet is a seasoned geneticist turned wellness educator and successful financial blogger. GenesWellness.com, leverages his rich academic background and passion for sharing knowledge online to demystify the role of genetics in wellness. His work is globally published and he is quoted on top health platforms like Medical News Today, Healthline, MDLinx, Verywell Mind, NCOA, and more. Using his unique mix of genetics expertise and digital fluency, Dr. Sumeet inspires readers toward healthier, more informed lifestyles.