Wilson’s Disease is a rare inherited disorder in which copper accumulates in the body to harmful levels. Although copper supports essential functions such as enzyme activity, brain development and energy production, only a small amount is required. Normally, the liver removes excess copper, but in Wilson’s Disease, this process fails, causing copper to build up in the liver, brain, eyes, and other organs. Over time, this accumulation leads to inflammation, tissue damage, and serious health complications. Without early diagnosis and consistent treatment, the condition can progress to life-threatening organ failure. Early awareness, medical evaluation, and long-term management are crucial to preventing irreversible damage and ensuring a better outcome for those affected by this condition.
Understanding genetic inheritance and carrier risks in Wilson’s Disease
Wilson’s Disease is an autosomal recessive condition, meaning a person must inherit two faulty copies of the ATP7B gene, one from each parent, to develop symptoms. Parents who carry one abnormal gene often feel completely healthy and may not realise they can pass the disorder to their children. When both parents are carriers, each child has a twenty-five percent chance of developing Wilson’s Disease, a fifty percent chance of being a carrier, and a twenty-five percent chance of inheriting no abnormal gene at all.Although Wilson’s Disease affects roughly one in thirty thousand people worldwide, the number of carriers is significantly higher. Because carriers do not usually experience symptoms, it is often difficult to identify who is at risk within a family. This makes genetic awareness and early testing essential, especially when there is a known history of liver disease or neurological disorders.
How Wilson’s Disease affects the body
In a healthy system, excess copper is transported to the liver, processed, and expelled through bile. In Wilson’s Disease, the ATP7B gene mutation disrupts this process. Copper becomes trapped inside liver cells until the liver can no longer store it safely. The copper then spills into the bloodstream, travelling to other organs where it begins to accumulate. Over time, this leads to inflammation, tissue damage, and scarring.Copper toxicity affects different people in different ways. Some individuals show prominent liver-related issues, while others develop neurological or psychiatric symptoms first. Many people remain unaware of their condition until copper levels have already caused significant damage.
Wilson’s Disease symptoms and warning signs
Although Wilson’s Disease is present from birth, symptoms often appear between the ages of five and forty. Very young children may show liver problems, while teenagers and adults more commonly experience neurological or psychological changes. The condition can imitate many other illnesses, which makes early detection challenging.The liver is usually the first organ affected because it is the main site of copper storage. Symptoms may include tiredness, nausea, vomiting, poor appetite, and pain in the upper abdomen. Dark urine, pale stool, and jaundice are also common. Some individuals progress to acute liver failure without warning. Others develop chronic liver disease and cirrhosis, which may lead to abdominal swelling, severe itching, weight loss, fatigue, and swelling in the legs or feet.
- Neurological and mental health symptoms
When copper accumulates in the brain, it affects movement, speech, and mental function. People may experience tremors, muscle stiffness, difficulty swallowing, or problems with balance and coordination. Mental health symptoms include anxiety, depression, irritability, personality changes, and, in severe cases, confusion or psychosis. These symptoms can easily be mistaken for psychiatric disorders if copper levels are not checked.
- Eye changes linked to copper deposits
A distinguishing feature of Wilson’s Disease is the Kayser-Fleischer ring, a green, gold, or brown ring around the cornea caused by copper deposits. This ring is detected through a slit lamp eye examination and is especially common in people with neurological symptoms. Half of those with liver-related symptoms also display this sign.In addition to liver and brain involvement, Wilson’s Disease may cause bone pain, arthritis, osteoporosis, anaemia, kidney stones, heart complications such as cardiomyopathy, and hormonal irregularities. These diverse symptoms highlight the importance of a thorough medical evaluation.
Causes of Wilson’s Disease
The ATP7B gene plays a crucial role in transporting copper out of the liver. When this gene is mutated, excess copper cannot be transferred into bile for removal. Instead, the copper becomes trapped and eventually leaks into the bloodstream. This faulty copper metabolism is the foundation of all complications related to Wilson’s Disease .A person must inherit two affected ATP7B genes to develop the disorder. Those with only one faulty gene are carriers and do not usually show symptoms, although they can pass the condition to their children. Genetic counselling is beneficial for families with a known history of the disease.
Management and treatment of Wilson’s Disease
Although Wilson’s Disease cannot be prevented, early detection in family members reduces the risk of complications. Siblings and children of affected individuals should undergo genetic testing or copper level assessments.
- Supporting a healthy lifestyle
People living with Wilson’s Disease benefit from regular medical follow ups, a copper controlled diet and consistent use of prescribed medications. Emotional and psychological support is also important, especially for individuals dealing with neurological or mental health symptoms.
- Importance of family screening
Because Wilson’s Disease is inherited, family screening is crucial. Identifying carriers and affected individuals early leads to prompt treatment and better outcomes.Also Read | “Zero sugar doesn’t mean zero harm!”: Expert reveals hidden dangers of sugar-free snacks on gut health, insulin, and weight gain
