The liver is a pretty important organ. Some people think of it as the place where alcohol goes. Your neighbor’s kid in the 6th grade will tell you that it is the largest internal organ. For others, liver is a tasty dinner, especially when it is served with caramelized onions. Doctors will tell you that the liver is the place where most of the toxins that we consume are processed. When the liver is not able to process copper, it is called Wilson disease.
Copper is a valuable part of a healthy body that most people get from their diets. Copper keeps nerves healthy and helps produce red blood cells. However, when the body has too much copper (as happens with Wilson disease), the liver needs to filter it out and channel it into bile so that the body can safely dispose of it.
The disease is a mutation of a specific gene that prevents the liver from filtering out copper. It is a recessive trait, so children need to inherit the mutated gene from both parents in order to develop it. People can be a carrier without showing any symptoms. Wilson disease does not favor one gender over the other. Most people are diagnosed in childhood or early adulthood.
Various symptoms are common for people with Wilson disease. These symptoms generally categorize down to two types: neurological and gastrointestinal. Neurologically, sufferers may experience tremors, spasms, or a tingly sensation. Gastrointestinally, they may also have nausea, vomiting, or jaundice.
Several treatment options exist for Wilson disease. Some people are able to be treated with medications that help remove the extra copper. Others are able to effectively reduce their intake of copper by adjusting their diets. More extreme cases require a liver transplant.
In 1999, a young man from Scotland named Iain was diagnosed at the age of 13. He was a normal, healthy, active adolescent when he started noticing tremors, jaundice, and fainting spells. It took some time before he was finally diagnosed properly. After he got a liver transplant, his life returned to what he considers to be normal.
There are millions more like Iain. Experts estimate that between 10 and 30 million people are living with Wilson disease today. A simple genetic test can identify these people as carriers or having Wilson’s disease. If more people knew they had this genetic mutation, then it would be possible for them to be treated more effectively.