Wilson Disease: Symptoms, Treatment
Overview
Wilson disease is a rare genetic disorder in which your body is unable to remove extra copper, causing it to accumulate in your liver, brain and other vital organs. Copper is important for your body. It promotes the development of healthy nerves, bones, collagen and the skin pigment melanin. However, when there is too much copper left in your body, you will have Wilson disease. A high level of copper can lead to life-threatening organ damage.
Wilson disease can affect people at any age, but it is most common in people who are 5 to 35 years old. The prevalence of this disease is still under study. Based on a latest study in the UK, about 1 in 7,000 people have gene mutations that cause Wilson disease.
Symptoms
Although Wilson disease is present at birth, signs or symptoms donât show up until the copper builds up in the brain, liver or other organs. Symptoms depend on the part of your body that the disease affects. They include:
Liver symptoms
People suffering from Wilson disease may have symptoms of hepatitis, or inflammation of the liver, including:
- Fatigue
- Nausea and vomiting
- Poor appetite
- Pain over the liver, in the upper part of the abdomen
- Dark urine
- Light stool
- Jaundice
Sometimes people develop these above-described symptoms when they have acute liver failure.
Besides, some people with Wilson disease experience symptoms only when they develop chronic liver disease and complications from cirrhosis. These symptoms may involve:
- Fatigue
- Loss of weight without trying
- Bloating from a buildup of fluid in the abdomen
- Swelling of the lower legs, ankles, or feet
- Itchy skin
- Jaundice
Nervous system and mental health symptoms
Nervous system and mental health symptoms may occur in people with Wilson disease as well. These symptoms are more often observed in adults than in children. Nervous system symptoms may include:
- Problems with speech, swallowing, or physical coordination
- Stiff muscles
- Tremors or uncontrolled movements
Mental health symptoms may include:
- Anxiety
- Changes in mood, personality, or behavior
- Depression
- Psychosis
Eye symptoms
Greenish, gold or brownish rings around the edge of the corneas, called Kayser-Fleischer rings, may also be seen if copper keeps building up. More than 9 out of 10 people who have nervous system symptoms have Kayser-Fleischer rings at the same time. And about fifty percent of people who have only liver symptoms have Kayser-Fleischer rings.
Other symptoms
When other parts of your body are affected, you may have symptoms such as:
- Hemolytic anemia
- Bone and joint problems, such as arthritis
- Heart problems, such as cardiomyopathy
- Kidney problems, such as kidney stones
Causes
Wilson disease is caused by mutations of a gene called ATP7B, which can prevent your body from eliminating extra copper. These mutations are autosomal recessive. In other words, a person must inherit two defective genes, one from each parent, to develop Wilson disease.
Having one ATP7B gene without a mutation or one ATP7B gene with a mutation will not lead to the disease. However, this kind of person is a carrier, which means the gene can be passed to his or her children.
Complications
Wilson disease can cause serious complications, such as:
- Scarring of the liver (cirrhosis)
- Liver failure
- Persistent neurological problems
- Kidney problems
- Psychological problems
- Blood problems
Diagnosis
Since signs or symptoms of Wilson disease are similar to those of other conditions, it is difficult to diagnose Wilson disease. Your doctor may use a combination of symptoms and test results to make the diagnosis. Tests may include:
- Blood and urine tests
- Eye exam
- Liver biopsy
- Genetic testing
Treatment
Medications
Treatment will be lifelong if you take medications to treat Wilson disease. Medications may include:
In addition to the medications above, other medications may be recommended to relieve your symptoms.
Surgery
A liver transplant may be necessary when the condition is severe. A transplanted liver can come from either a dead donor or a living donor such as a family member. In the second case, the doctor will replace the diseased liver with a portion of the donorâs liver.
Keyword: Wilson disease.