- Wilson’s disease is a rare genetic condition that causes copper poisoning in the body.
- The symptoms of Wilson’s disease vary depending on which organ has copper buildup.
- Early diagnosis and treatment offer the best outlook for people with Wilson’s disease.
Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects about 1 in 30,000 people worldwide.
In a healthy body, the liver filters out excess copper and releases it through urine. With Wilson’s disease, the liver cannot remove the extra copper properly. The extra copper then builds up in organs such as the brain, liver, and eyes.
Early diagnosis is crucial for stopping the progression of Wilson’s disease. Treatment may involve taking medication or getting a liver transplant. Delaying or not receiving treatment can cause liver failure, brain damage, or other life-threatening conditions.
Talk to your doctor if your family has a history of Wilson’s disease. Many people with this condition live normal, healthy lives.
The signs and symptoms of Wilson’s disease vary widely, depending on which organ is affected. They can be mistaken for other diseases or conditions. Wilson’s disease can only be detected by a doctor and through diagnostic testing.
The following symptoms may indicate copper accumulation in the liver:
- feeling tired
- weight loss
- loss of appetite
- jaundice, or yellowing of the skin
- edema, or the swelling of legs and abdomen
- pain or bloating in the abdomen
- spider angiomas, or visible branch-like blood vessels on the skin
- muscle cramps
Many of these symptoms, such as jaundice and edema, are the same for other conditions like liver and kidney failure. Your doctor will conduct multiple tests before confirming a diagnosis of Wilson’s disease.
Copper accumulation in the brain can cause symptoms such as:
- memory, speech, or vision impairment
- abnormal walking
- clumsiness with hands
- personality changes
- changes in mood
- problems in school
In the advanced stages, these symptoms may include muscle spasms, seizures, and muscle pain during movement.
Kayser-Fleischer rings and sunflower cataract
Your doctor will also check for Kayser-Fleischer (K-F) rings and sunflower cataract in the eyes. K-F rings are abnormal golden-brown discolorations in the eyes that are caused by deposits of excess copper. K-F rings show up in about 97 percent of people with Wilson’s disease.
Sunflower cataracts show up in 1 out of 5 people with Wilson’s disease. This is a distinctive multicolored center with spokes that radiate outward.
The buildup of copper in other organs can cause:
- bluish discoloration in the nails
- kidney stones
- premature osteoporosis, or lack of bone density
- menstrual irregularities
- low blood pressure
A mutation in the ATP7B gene, which codes for copper transportation, causes Wilson’s disease. You must inherit the gene from both parents in order to have Wilson’s disease. This can mean that one of your parents has the condition or carries the gene.
The gene can skip a generation, so you may want to look further than your parents or take a genetic test.
Sometimes your doctor will be able to rule out Wilson’s disease once neurological symptoms occur and there’s no K-F ring visible. But this isn’t always the case for people with liver-specific symptoms or no other symptoms.
A doctor will ask about your symptoms and ask for your family’s medical history. They’ll also use a variety of tests to look for damage caused by copper accumulations.
During your physical, your doctor will:
- examine your body
- listen for sounds in the abdomen
- check your eyes under a bright light for K-F rings or sunflower cataracts
- tests your motor and memory skills
For blood tests, your doctor will draw samples and have them analyzed at a lab to check for:
- abnormalities in your liver enzymes
- copper levels in the blood
- lower levels of ceruloplasmin, a protein that carries copper through the blood
- a mutated gene, also called genetic testing
- low blood sugar
Your doctor may also ask you to collect your urine for 24 hours to look for copper accumulation.
Magnetic resonance imaging (MRI) and computerized tomography (CT) scans may help show any brain abnormalities, especially if you have neurological symptoms. These findings can’t diagnose the condition, but they can help determine a diagnosis or how advanced the condition is.
Your doctor will look for weak brain stem signals and damage to the brain and liver.
Your doctor may suggest a liver biopsy to look for signs of damage and high levels of copper. If you agree to this procedure, you may need to stop taking certain medications and fast for eight hours beforehand.
Your doctor will apply a local anesthetic before inserting a needle to take a tissue sample. You may ask for sedatives and pain medication, if needed. Before going home, you’ll need to lie on your side for two hours and wait an additional two to four hours.
If your doctor finds the presence of Wilson’s disease, they may recommend your siblings take a genetic test too. It can help identify whether you or your other family members are at risk for passing on Wilson’s disease.
You may also want to consider future screening for your newborn if you’re pregnant and have Wilson’s disease.
Successful treatment of Wilson’s disease depends upon timing more than medication. Treatment often happens in three stages and should last a lifetime. If a person stops taking the medications, copper can build back up again.
The first treatment is to remove excess copper from your body through chelating therapy. Chelating agents include drugs like d-penicillamine and trientine, or Syprine. These drugs will remove the extra copper from your organs and release it into the bloodstream. Your kidneys will then filter the copper into the urine.
Trientine has fewer reported side effects than d-penicillamine. Potential side effects d-penicillamine include:
- kidney issues
- bone marrow issues
Your doctor will provide lower dosages of chelating drugs if you’re pregnant, as they can cause birth defects.
The goal of second stage is to maintain normal levels of copper after removal. Your doctor will prescribe zinc or tetrathiomolybdate if you’ve finished the first treatment or show no symptoms but have Wilson’s disease.
Zinc taken orally as salts or acetate (Galzin) keeps the body from absorbing copper from foods. You may have slight stomach upset from taking zinc. Children with Wilson’s disease but no symptoms may want to take zinc to prevent the condition from worsening or slow its progress.
After the symptoms improve and your copper levels are normal, you’ll want to focus on long-term maintenance therapy. This includes continuing zinc or chelating therapy and regularly monitoring your copper levels.
You can also manage your copper levels by avoiding foods with high levels, such as:
- dried fruit
You might want to check your water levels at home, too. There may be extra copper in your water if your home has copper pipes.
Medications can take anywhere from four to six months to work in a person who is experiencing symptoms. If a person doesn’t respond to these treatments, they may require a liver transplant. A successful liver transplant can cure Wilson’s disease. The success rate for liver transplants is 85 percent after one year.
A few medical centers have clinical trials for a new drug called WTX101. Wilson Theraputics developed this drug for the treatment of Wilson’s disease. It carries a chemical named tetrathiomolybdate, which keeps the body from absorbing copper. It has shown to be effective for people in the early stages of Wilson’s disease, especially in people with neurological symptoms. Click here to find more information on a center in your area.
The earlier you find out if you have the gene for Wilson’s disease, the better your prognosis is. Wilson’s disease can develop into liver failure and brain damage if left untreated.
Early treatment can help reverse neurological issues and liver damage. Treatment in a later stage may prevent further progress of the disease, but it won’t always restore the damage. People in the advanced stages may have to learn how to manage their symptoms over the course of their life.
Wilson’s disease is an inherited gene that’s passed down from parents to their children. If parents have a child with Wilson’s disease, they could potentially have other children with the condition as well.
Although you can’t prevent Wilson’s disease, you can delay or slow the onset of the condition. If you find out you have Wilson’s disease early on, you may be able to prevent the symptoms from showing by taking medications like zinc. A genetic specialist can help parents determine their potential risk for passing Wilson’s disease to their children.
Make an appointment with your doctor if you or someone you know may have Wilson’s disease or are showing symptoms of liver failure. The biggest indicator for this condition is family history, but the mutated gene can skip a generation. You may want to ask for a genetic test alongside the other tests your doctor will schedule.
You’ll want to start your treatment immediately if you get a diagnosis for Wilson’s disease. Early treatment can help prevent or delay the condition, especially if you aren’t showing symptoms yet. Medication includes chelating agents and zinc and may take up to six months to work. Even after your copper levels return to normal, you should continue taking medication, as Wilson’s disease is a lifelong condition.