What else is it called?
- Hepatolenticular Degeneration
Get in touch
Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday.
Prefer to email? Our email address is firstname.lastname@example.org.
What causes it?
Wilson’s Disease is a rare inherited metabolic disorder which causes high amounts of copper to build up in the body. We need small amounts of copper to remain healthy. We can get this from the food we eat. Usually we get more copper than we need, and we get rid of any copper we don’t need in the bile and it goes on to be excreted. If you have Wilson’s Disease, your body cannot get rid of the excess copper, so it builds up and becomes toxic. This can cause serious damage to the body and in many cases, this cannot be reversed. If the symptoms of this disorder are not recognised and treated it will be fatal in all cases. However, if it is diagnosed early, the disorder can be managed effectively.
How common is it?
It is thought to affect one person in every 30,000 worldwide and affects men and women in equal numbers. It is thought that 1 in every 100 people carry the gene which causes Wilson’s Disease.
What are the signs and symptoms?
There are many different signs and symptoms of Wilson’s Disease. They vary depending which parts of the body are affected. In some cases, you may not have symptoms and will have only received a diagnosis following a routine appointment. This disorder is present from birth. However, it does not become noticeable until the copper builds up in the liver, the brain, or other organs causing the signs and symptoms.
Signs and symptoms usually affect the liver, the central nervous system, or both and can also cause mental health problems as well as other problems.
The liver is the first organ that is affected, this is because the copper builds up in the liver cells before overflowing into the bloodstream where it goes on to affect other parts of the body. Signs and symptoms which are associated with the liver include:
- Yellowing of the skin and whites of the eyes (jaundice)
- Muscle cramps
- Excessive tiredness (fatigue)
- Poor appetite
- Feeling sick (nausea)
- Weight loss
- Abdominal pain
- Swelling caused by fluid accumulating in the abdomen
- Swelling of the legs, feet, or ankles.
- Vomiting blood due to abnormal blood vessels in the oesophagus.
- Swelling of the hands or face
This condition can cause a swollen and inflamed liver (hepatitis) which can lead to a build-up of scar tissue (cirrhosis) preventing the liver from working properly.
There may be a rapid onset of symptoms of severe liver failure which may also be associated with a low level of red blood cells (anaemia) and confusion. This is rare and occurs more frequently in teenagers and women.
In some cases, an abnormal liver function test may be the only sign of an underlying problem with other symptoms not occurring until much later.
Central Nervous System (CNS)
Symptoms which affect the CNS usually occur after you have had noticeable liver symptoms. The CNS consists of the brain and spinal cord, it is a complex of nerve tissues which processes information from all over the body and coordinates activity across the whole body. Symptoms which affect the CNS most often affect adults, although may sometimes occur in children. Signs and symptoms include:
- Uncontrollable shaking or trembling in a certain part of the body
- Stiff muscles
- Permanent muscle contractions
- Muscle contractions resulting in repetitive twisted or fixed postures (dystonia)
- Loss of coordination
- Slow movements
- Speech difficulties and/or poor articulation
- Swallowing difficulties
Mental health problems may occur after the copper has built up in the CNS. Not everyone has mental health problems. Signs and symptoms vary greatly and may include:
- Mood swings
- Changes in personality
- Changes in behaviour
- Hallucinations and losing contact with reality (psychosis)
These problems can often lead to the condition being wrongly diagnosed.
Other Signs and Symptoms
Other signs and symptoms vary, they may include:
- Arthritis which may occur at a young age
- Low bone density causing them to become brittle and prone to fractures and breaking.
- Bony growths on the large joints (osteophytes)
- Menstrual problems
- Miscarriages and/or infertility
- Kidney stones and/or other kidney problems
- Low levels of red or white blood cells and/or low platelets in the blood
- High levels of amino acids, protein, uric acid, and carbohydrates in the urine
Kayser-Fleischer rings are a unique sign of Wilson’s Disease. They are described as a rusty coloured brown ring which can be seen around the edge of the coloured part of the eye. Usually these are not visible to the naked eye and will only be seen during an eye examination. If you have CNS related symptoms you are likely to have these rings. However, they are only seen in around 50% of people who just have symptoms of liver damage.
How is it diagnosed?
You may be told that you have a suspected diagnosis after your symptoms are recognised as being associated with Wilson’s Disease. To confirm your diagnosis, the doctors will look at your medical history and your family’s medical history. You will have different types of tests including:
- Eye examination
- Liver function tests (a type of blood test)
- Blood and Urine tests
- Imagining tests such as an MRI
- Liver biopsy
Can it be treated?
If you treat Wilson’s Disease early there is a better chance of stopping any permanent damage from symptoms. The aim of treatment is to remove the copper that has built up and to stop it from building up again in the future. This means that the treatment for Wilson’s Disease is life-long. If you do not continue to take your medications or follow your treatment plan, the copper will build up again and this can cause severe symptoms which can be fatal.
There are different medications that can be used to improve symptoms and to stop symptoms from progressing:
- Penicillamine – this is used to remove copper from the body.
- Trientine – this also removes copper from the body and is an alternative to penicillamine.
- Zinc – this does not remove copper from your body but stops your body from absorbing it, so it stops any further build up. It may be used for the following reasons:
- If you have been diagnosed early and have no symptoms
- If you experience side effects to penicillamine and trientine
- If you have had successful treatment to remove the copper
Your specialist will carefully choose which treatment is going to work the best for you and this will be adapted as your symptoms change. If you are treated with penicillamine you may also need a vitamin B supplement, your doctor will discuss if this is required.
It is likely that you will be advised to avoid eating foods that have a high copper content. Many foods contain copper and it is important that you continue that you still get all the nutrients you need to stay healthy. This will be explained to you by your specialist or by your specialist dietitian and they will help you to manage your diet.
These foods are known to be high in copper (levels can vary depending on certain factors):
- Liver and other offal such as kidney and heart
- Beans (e.g. soy, pinto, edamame, baked beans)
- Shellfish (e.g. prawns, shrimps, mussels, oysters), especially lobster
- Dried fruits (e.g. raisins, sultanas, dates, prunes)
- Dried peas and lentils
- Grains (e.g. whole wheat, barley)
- Soya products
You may also be advised to drink distilled water, or de-mineralised water instead of tap water.
You should avoid alcohol as it can worsen symptoms.
A liver transplant is an option in the following cases:
- If you have not responded to any treatment with medications.
- If you have had a late diagnosis and have severe liver symptoms such as cirrhosis or liver failure.
A liver transplant can be life saving and will be carefully considered. The long-term prognosis following a transplant is usually very good.
Do my family need to be tested?
Wilson’s Disease can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.
If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.
If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.
Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inherited Wilson’s Disease. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.