Wilson's Disease

Wilson's Disease is a rare genetic disorder where your body is unable to properly remove excess copper. Normally, copper from your diet is processed and removed, but with Wilson's Disease, it builds up to toxic levels, primarily in your liver, brain, and eyes, but also in other organs. This accumulation of copper can cause damage and dysfunction in these organs over time. This condition is inherited, meaning it's passed down through families. It occurs when a person inherits a faulty gene, called ATP7B, from both parents. This gene is responsible for producing a protein that helps transport copper out of the liver and into bile for excretion. When this gene doesn't work correctly, the body cannot eliminate copper efficiently, leading to its dangerous buildup. Because the symptoms of Wilson's Disease can vary widely and often resemble those of other conditions, laboratory tests are essential for an accurate diagnosis. These tests help your doctor measure copper levels in your blood and urine, check levels of a copper-carrying protein called ceruloplasmin, and assess liver function. Genetic testing can also confirm the presence of the faulty gene. Early diagnosis through these tests is crucial for starting treatment promptly and preventing serious, often irreversible, organ damage.