Wilson disease is a rare genetic disease marked by the gradual accumulation of excess copper in the body, primarily in the liver, brain, eyes, and other organs. It is caused by a genetic mutation that prevents the body from removing extra dietary copper. Wilson disease affects approximately 1 in every 30,000 individuals, with a higher prevalence among certain populations. Without treatment, this buildup of copper can lead to life-threatening organ damage. This blog will review the causes, symptoms, diagnosis, and treatment of this disease.
What Causes Wilson Disease?
Wilson disease occurs in people who inherit a mutated form of the ATP7B gene from both parents. This gene provides instructions for manufacturing a protein that plays a role in the transport of copper from the liver to other parts of the body.
How Does Wilson Disease Affect the Body?
Early signs of Wilson disease can appear in children as young as five, but most cases begin during the teenage years. In children and teens, affected individuals will show symptoms of liver disease, including fatigue, nausea, poor appetite, pain over the liver, changes in urine and stool color, and jaundice.
Although symptoms can vary widely, people diagnosed as adults may be more likely to experience a combination of liver disease symptoms and neurological and psychiatric problems. These may include poor coordination, muscle stiffness and tremors, difficulty walking, speech problems, impaired thinking, depression, anxiety, and mood swings.
The accumulation of copper in the eyes can contribute to the appearance of Kayser-Fleischer rings, which are green, gold, or brown rings around the cornea. In other parts of the body, Wilson disease can contribute to hemolytic anemia, arthritis or osteoporosis, cardiomyopathy, and renal tubular acidosis or kidney stones.
Complications of the disease may include acute liver failure, cirrhosis, and chronic liver failure. Thirty-five to 45 percent of people diagnosed with Wilson disease have cirrhosis at the time of diagnosis.
How is Wilson Disease Diagnosed?
Lab tests can aid in diagnosing Wilson disease, along with a review of the patient’s medical history, family history, and an eye exam to detect the presence of Kayser-Fleischer rings. Blood tests assess levels of ceruloplasmin, a protein responsible for copper transport in the bloodstream. Wilson disease is marked by low ceruloplasmin levels. Blood tests for copper and liver enzymes including ALT and AST are also used. In addition, red blood cell counts are assessed as Wilson disease can lead to anemia.
A 24-hour urine collection test may also be used to measure copper levels in the urine. In some cases, a liver biopsy may be necessary to confirm the diagnosis and evaluate liver damage. Liver tissue can also be evaluated for copper content.
Treatment for Wilson Disease
Wilson disease can be treated, but not cured. Medications such as D-penicillamine and trientine are prescribed to remove excess copper from the body. Zinc can reduce the absorption of copper. However, such treatments come with serious side effects. D-penicillamine has a high rate of negative effects including immunological conditions, skin problems, joint disorders, and neurological symptoms. People with Wilson disease also are advised to limit the consumption of foods that are high in copper, such as shellfish and liver.
Gene therapy for Wilson disease is being investigated. The treatment would allow people with the disease to produce the copper transporter protein that they lack. The first patient in the clinical trial, an adult who was diagnosed at age seven, received the treatment at Yale New Haven Hospital. “We have limited treatments for Wilson’s Disease … [that] are just to control the disease, not to cure the disease,” said Daksshi Hettiarachchi, primary care coordinator of the clinical trial. “If this gene therapy works, if they don’t have to take this [D-penicillamine] treatment, it’s going to be a huge, huge plus for them.”
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