Wilson Disease: When copper causes seizures and tremors
Wilson Disease is a rare cause of liver diseases like hepatitis and cirrhosis. Wilson Disease can be treated if detected early, but is commonly diagnosed in children only after complications have occurred.
Wilson Disease is a genetic condition. It results from spelling mistakes in the genetic code of a gene called ATP7B. The ATP7B gene makes a protein that transports copper around the body. Copper is a micronutrient and in Wilson Disease it can’t be removed by the body because the transport protein does not work properly and copper builds up in different parts of the body, causing those parts to malfunction.
MRI of the brain of a person with Wilson Disease. The arrows point to copper build up in the brain.
Wilson Disease is normally diagnosed after the age of 3 and sometimes even after the age of 50. When it is picked up by doctors it has often caused liver problems (inflammation of the liver and sometimes irreversible scarring), brain problems (abnormal movements like tremors and seizures), or mental health problems.
Some people spend a long time and need multiple visits to doctors before the condition is diagnosed because it is rare and often not on a doctor’s radar. Also, the problems it causes are similar to other more common diseases leading to misdiagnosis before it is finally detected. Although people have Wilson Disease from birth, health problems are only noticeable later in life. Tarsha Ronelle was 21 years old before being diagnosed with the condition. After she first began showing symptoms, which included noticing her hands starting to shake all the time, she suffered a 3 month “diagnostic odyssey” of brain scans and visiting numerous specialist doctors, and had 8 vials of blood taken from her before finally being diagnosed with Wilson Disease. Learn more about Tarsha’s story here.
Undiagnosed Wilson Disease can cause a ring of copper to build up in the eye called a “Kaiser-Fleischer” ring.
It is estimated about one in 40 000 Australians have Wilson Disease, meaning that a handful of children are born with this condition every year. There are approximately 500 people in Australia currently with the condition (the exact number is not known) and many do not know they have it.
The treatment for Wilson Disease is life long medication which prevents absorption of copper from food. This lowers the copper level in the body and prevents damaging build up of copper. If people start treatment early enough they can avoid copper build up in the brain and liver.
A preventive screening test would have saved people like Tarsha from getting sick and having to endure months of anxiety from delayed diagnosis. New medical genomic testing developed by Genepath can now screen well looking babies and children for Wilson Disease, which would allow early diagnosis to prevent serious health problems caused by late diagnosis of this easily treatable condition. Currently, population screening for Wilson Disease is not offered by the public health system in Australia. Until a population screening program for Wilson Disease starts in Australia, the best way to help those with the condition is to raise awareness about the condition. As Tarsha says “Awareness of Wilson Disease is the start. Awareness starts NOW.”
Other resources
Rare Disease Day supports awareness about Wilson Disease and other inherited conditions.
If you have Wilson Disease or know someone who does, there is a Wilson Disease Support Group on Facebook that may help.
The Wilson Disease Association has detailed information about the condition.
For healthcare professionals: This scientific paper discusses how hepatitis was misdiagnosed as the cause of a child’s liver problems, but after a genetic test the cause was found to be Wilson Disease.