What Is Wilson’s Disease and How Is It Treated?

Wilson disease is a rare genetic disorder that causes an excess of copper to accumulate in organs such as the brain, liver, and eyes. This condition, also referred to as progressive lenticular degeneration and hepatolenticular degeneration, affects around 1 in 30,000 people worldwide. Learn more about this condition, how it’s diagnosed, symptoms, treatments, and more.

What is Wilson's disease?

Wilson’s disease is when there is too much copper built up in one or more organs. Typically, the body absorbs copper from food and uses it for the development of healthy nerves, bones, and skin. The liver is responsible for eliminating excess copper through urine. However, with Wilson's disease, the liver does not effectively excrete the excess copper.

Early diagnosis and prompt treatment of this rare genetic disorder are important. If left untreated, Wilson's disease can lead to acute liver failure, brain damage, and other life-threatening complications. Treatment options include medication or a liver transplant in the case of liver cirrhosis (scarring of the liver). Those with a family history of Wilson's disease should consult a doctor and receive genetic counseling. Despite the condition, many people with this disorder lead healthy, normal lives.

Wilson disease Symptoms

Neurological or liver symptoms can be present depending on which organs are impacted. Wilson’s disease is commonly misidentified due to the symptoms being comparable to what is seen in other conditions. A medical professional can diagnose Wilson disease through diagnostic or genetic testing.

Liver symptoms

The buildup of copper in the liver can lead to a loss of liver function and other liver diseases. The following symptoms can be a sign of liver damage from Wilson disease:

Muscle cramps
Weight loss
Feeling tired
Weakness
Loss of appetite
Itching
Vomiting
Nausea
Spider angiomas on the skin
Pain in the abdomen
Edema of the legs and abdomen
Jaundice

Some liver symptoms of Wilson disease, like jaundice and edema, are also seen in other ailments, such as acute liver failure and kidney failure.

Your physician will perform blood tests, urine tests, genetic testing, an eye exam, and a liver biopsy to determine a diagnosis of Wilson disease.

Neurological symptoms

The accumulation of excess copper in the brain can impact the central nervous system and lead to neurological symptoms, including:

Problems in school
Abnormal walking
Memory, speech, or vision impairment
Migraines
Insomnia
Drooling
Depression
Changes in mood
Personality changes
Seizures, involuntary muscle movements, and muscle pain

Other symptoms of Wilson disease

The accumulation of copper in other organs can lead to other symptoms, including the following:

Low blood pressure
Menstrual irregularities
Arthritis
Premature osteoporosis, or lack of bone density
Kidney stones
Bluish discoloration in the nails

Sunflower Cataracts and Kayser-Fleischer Rings

Your physician will conduct an eye exam to check your eyes for Kayser-Fleischer (K-F) rings and sunflower cataracts. K-F rings are rare golden-brown discolorations in the eye caused by too much copper. Approximately 97% of people with Wilson's disease have K-F rings. An eye exam can also check for sunflower cataracts. One in five individuals with Wilson's disease develops sunflower cataracts, identifiable by their multicolored center with radiating spokes.

Who is at risk for Wilson's Disease, and what causes it?

Wilson's disease is a rare autosomal recessive disorder that arises due to a mutation in the ATP7B gene, which is responsible for transporting copper. As this is an inherited disease, Wilson’s disease occurs only when an individual inherits the mutated abnormal gene from both parents, meaning one of your parents may have the disease or carry one abnormal gene responsible for it. As the gene can skip generations, it may be necessary to conduct genetic testing to determine your risk.

How do you treat Wilson disease?

Wilson’s disease requires lifelong treatment and, if left untreated, can be fatal. The effectiveness of the treatment relies heavily on the timing of its administration rather than the medication itself. The Wilson disease treatment process must continue throughout the patient's life. If the patient stops treatment, the copper levels in their body may return to abnormal levels.

Phase one: drug therapy

Chelating agents like d-penicillamine, trientine, and Syprine are commonly prescribed to remove excess copper from the body to treat Wilson's disease. This drug therapy works by removing the excess copper from organs and releasing it into the bloodstream, which is then filtered by the kidneys and ultimately excreted through urine.

Trientine is known to be associated with fewer adverse effects than d-penicillamine. Some of the possible negative effects of d-penicillamine include:

Bone marrow problems
Kidney problems
Rash
Fever

Using chelating medications can lead to congenital disabilities. Therefore, if you are pregnant or plan on becoming pregnant, tell your doctor immediately so they can modify your dosage.

Phase 2: zinc for maintenance treatment

The second phase aims to ensure that copper levels remain normal after extraction. If you have completed your initial treatment and are symptom-free, your doctor may prescribe zinc acetate or tetrathiomolybdate.

Oral zinc, available as salts or zinc acetate (Galzin), inhibits copper absorption from food. Taking zinc supplements may cause mild stomach discomfort. Children with Wilson's disease who are asymptomatic may consider taking zinc to prevent or slow the progression of the disease.

Phase 3: lifestyle changes

Once your symptoms have improved and your copper levels have returned to normal, it is essential to focus on maintaining your health in the long term. Lifelong maintenance treatment is necessary once you have begun taking zinc or a chelating agent. You will also need to consistently monitor your copper levels.

In addition, it may be helpful to avoid foods that are high in copper. These include:

Multivitamins
Chocolate
Shellfish
Nuts
Mushrooms
Liver
Dried fruit

It may also be beneficial to check the water copper levels in your home, especially if you have copper pipes, as the water may contain too much copper.

It typically takes four to six months for medications to take effect. Individuals who do not respond positively to the aforementioned treatments and who have developed severe liver damage may need to undergo a liver transplant. Liver transplantation consists of a surgeon removing the diseased liver and replacing it with a portion of a donor’s healthy liver tissue.

Clinical Trials for Wilson's Disease

Several medical facilities are conducting clinical trials to treat Wilson's disease with WTX101, a new drug developed by Wilson Therapeutics. This medication contains tetrathiomolybdate, a chemical that inhibits copper absorption in the body. It has shown promise in treating early-stage Wilson's disease patients, particularly those with neurological symptoms.

What is the prognosis for Wilson's disease?

Determining whether you carry the gene for Wilson's disease as early as possible is essential to improve your prognosis.

If left untreated, Wilson's disease can lead to liver failure and brain damage. Early detection can help reverse neurological issues and liver damage. Although later-stage treatment may prevent the progression of the disease, it may not always be able to repair the damage. Individuals who have reached the advanced stage of the disease may have to learn how to treat symptoms for the rest of their lives. If you have severe liver damage, a liver transplant may be necessary.

Can you prevent Wilson disease?

Wilson's disease is a rare genetic disorder that can be passed down from parents to their children through a specific gene. If one parent has the disease, there is a chance that their current or future children may also inherit it.

Unfortunately, there is no known way to prevent Wilson disease. However, if identified early, it may be possible to delay or slow down the onset of symptoms. Taking zinc supplements can also help to prevent and treat symptoms. Genetic specialists can provide genetic counseling to assist parents in identifying their risk of transmitting Wilson's disease to their offspring.

Key points

If you or someone you know may be experiencing symptoms of Wilson's disease or liver failure, schedule an appointment with a doctor. While a family history is the most significant indication of this condition, the gene mutation can skip generations. In addition to the tests your physician will arrange, you may wish to request a genetic test.

If you are diagnosed with Wilson's disease, it is critical to begin treatment immediately. Even without symptoms, early treatment can help prevent or delay the condition's onset. It may take up to six months for medications consisting of chelating agents and zinc to take effect. As Wilson's disease is a lifelong condition, it is essential to continue taking medication even after your copper levels have returned to normal.

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