Symptoms and Diagnosis of Wilson’s Disease

Wilson’s disease is a rare genetic condition, but when it happens, it can affect almost every part of a person’s life. It occurs because the body can’t get rid of extra copper—a mineral we need in small amounts but becomes harmful when it builds up. Over time, this extra copper settles in organs like the liver, brain, and even the eyes, slowly causing damage.

Normally, the liver filters out extra copper from the food we eat and sends it out of the body. But in Wilson’s disease, a gene called ATP7B doesn’t work properly. Because of this, the liver holds on to copper instead of removing it. Over the years, this stored copper leaks into the bloodstream and begins accumulating in other organs.

Symptoms of Wilson’s Disease:

Liver Symptoms — often the first clues
Since the liver is the main organ affected, many early signs come from here. These symptoms might feel vague at first, like:

• Feeling tired all the time
• Weakness
• Nausea or loss of appetite

As copper damage increases, the signs become more noticeable:

• Jaundice — yellowing of the skin and eyes
• Abdominal pain or swelling
• Easy bruising or bleeding
• Swelling of legs or abdomen because of fluid buildup

In severe cases, especially in teenagers and young adults, the disease may suddenly cause acute liver failure, which is a medical emergency.

2. Neurological Symptoms — when copper affects the brain
Over time, excess copper spreads to the brain, leading to problems with movement and coordination. People may experience:

• Tremors or shaky hands
• Difficulty speaking clearly
• Problems with balance or walking
• Muscle stiffness
• Trouble swallowing
• Uncontrolled or jerky movements

These symptoms can be misunderstood as other neurological disorders, which often delays diagnosis.

3. Psychiatric Symptoms — changes in mood and behavior
Not all symptoms are physical. Many patients first experience emotional or behavioral changes, such as:

• Feeling unusually anxious or depressed
• Getting irritated easily
• Sudden mood swings
• Trouble concentrating or remembering things
• Personality changes

4. Eye Changes
One of the most recognizable signs is the Kayser–Fleischer ring. This is a golden-brown or greenish circle around the iris (the colored part of the eye). It forms when copper collects in the cornea.

An eye doctor can detect this using a special lamp. These rings don’t affect vision but are an important diagnostic clue.

5. Other Symptoms Across the Body
Because copper travels through the bloodstream, it can affect almost any organ. This may lead to:

• Kidney problems or kidney stones
• Joint pain or early osteoporosis
• Anemia due to the destruction of red blood cells

Diagnosis of Wilson’s Disease:

There isn’t one perfect test, so diagnosis usually relies on a combination of investigations to confirm the disease.

• Blood Tests: These check liver function and measure ceruloplasmin, a protein that binds copper. In Wilson’s disease, ceruloplasmin levels are often lower than normal.
• 24-Hour Urine Copper Test: This is one of the most reliable tests. The person collects their urine for 24 hours, and doctors measure how much copper is being excreted. Higher levels strongly point to Wilson’s disease.
• Eye Examination: A slit-lamp test helps detect Kayser–Fleischer rings, which are seen in most patients with neurological symptoms.
• Liver Biopsy: A small sample of liver tissue may be taken to directly measure copper levels. This gives one of the clearest confirmations.
• Genetic Testing: If needed, doctors check for mutations in the ATP7B gene. This is especially helpful for diagnosing family members who may not yet have symptoms.

Wilson’s disease is rare, but when caught early, it is very treatable. Most people can lead full, healthy lives with lifelong medication. The key is awareness—paying attention to early symptoms and getting the right tests done because early diagnosis truly makes all the difference.

References:

1. Mayo Clinic – Wilson Disease: Symptoms, Causes, and Treatment
2. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
3. European Association for the Study of the Liver (EASL) – Clinical Practice Guidelines
4. Wilson Disease Association – Diagnosis and Treatment Overview