Wilson disease

Hepatolenticular degeneration, Copper storage disease

Overview

Type of disease: Genetic, autosomal recessive | Pediatric onset | Blood/hemoglobin disorders | Rare Condition or Disease

Wilson disease is a rare genetic condition that causes a buildup of copper in the body and leads to liver, eye, and brain issues. Symptoms of Wilson disease can present anywhere between the ages of 6 to 45 years old. When Wilson disease presents in children and teenagers, liver disease is typically the first feature. Symptoms of liver disease in individuals with Wilson disease include yellowing of the skin and whites of the eyes (jaundice), decreased appetite, swelling of the lower stomach (abdomen), and feeling tired (fatigue). If Wilson disease presents in an adult, nervous system or psychiatric issues are usually the first features. Symptoms include being clumsy, shaking (tremors), and problems with speech, thinking, and walking. Wilson disease also causes a copper build up in the front of the eye (retina) called a Kayser-Fleischer ring.

Wilson disease is caused by changes (mutations) in the ATP7B gene and is inherited in an autosomal recessive manner, which means a person must have a mutation in both copies of their ATP7B gene in order to have the condition. The ATP7B gene provides the instructions for the body to make a copper transporter in the liver. When both copies of this gene are mutated, the body cannot make enough of the copper transporter, which causes the buildup of copper. There are many ways to diagnose Wilson disease, including a physical examination, blood or urine tests to measure copper levels, and imaging tests (MRI and CT scan). In some cases, the doctor may collect and examine a small piece of the liver (biopsy). Genetic testing is used to confirm the diagnosis. The goal of treatment for Wilson disease is to lower copper levels in the body. There are medications and changes to diet to help decrease a person’s copper level. In some cases, a liver transplant may be needed. If your child has been diagnosed with Wilson disease, talk with their doctor about the most current treatment options.

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