Wilson Disease: Symptoms, Causes, Treatment

What are the symptoms of Wilson disease?

Wilson disease is a genetic disorder that leads to excessive accumulation of copper in the body, particularly in the liver, brain, and other organs. Symptoms can vary widely depending on the organ systems affected, but common symptoms include:

• Liver Symptoms:
• Hepatitis: Inflammation of the liver, often presenting with jaundice (yellowing of the skin and eyes), abdominal pain, and swelling.
• Cirrhosis: Scarring of the liver tissue, which can cause symptoms such as fatigue, itching, and swelling in the abdomen.
• Enlarged Liver (Hepatomegaly): The liver may become swollen and tender.
• Neurological Symptoms:
• Movement Disorders: Tremors, dystonia (involuntary muscle contractions), and difficulties with coordination and balance.
• Parkinsonism: Symptoms similar to Parkinson’s disease, including rigidity, bradykinesia (slow movements), and tremors.
• Speech and Swallowing Difficulties: Problems with speaking clearly and swallowing.
• Personality and Behavioral Changes: Changes in mood, behavior, or personality, including depression, irritability, and psychosis.
• Psychiatric Symptoms:
• Mood Swings: Severe mood swings and changes in behavior.
• Cognitive Impairment: Problems with concentration, memory, and cognitive function.
• Eye Symptoms:
• Kayser-Fleischer Rings: Brown or greenish rings around the cornea of the eyes, which are deposits of copper.
• Kidney Symptoms:
• Renal Dysfunction: Problems with kidney function, which can lead to symptoms such as swelling in the legs and feet, and frequent urination.
• General Symptoms:
• Fatigue: Persistent tiredness and lack of energy.
• Anemia: Low red blood cell count, which can cause weakness and pallor.

Early diagnosis and treatment are crucial to managing Wilson disease and preventing severe complications.

What are the causes of Wilson disease?

Wilson disease is caused by a genetic mutation in the ATP7B gene, which is responsible for producing a protein that helps regulate copper levels in the body. Here’s a more detailed look at the causes:

• Genetic Mutation: The primary cause of Wilson disease is a mutation in the ATP7B gene. This gene encodes a copper-transporting protein that helps move copper into bile, which is then excreted from the body. When the ATP7B gene is mutated, the protein does not function properly, leading to the accumulation of copper in tissues.
• Inheritance Pattern: Wilson disease is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated ATP7B gene (one from each parent) to develop the disease. If a person inherits only one copy of the mutated gene, they are a carrier but typically do not show symptoms.
• Copper Accumulation: The defective ATP7B protein impairs the liver’s ability to excrete excess copper into bile. As a result, copper accumulates in the liver and other organs, such as the brain, corneas, and kidneys. Over time, this accumulation leads to toxicity and damage to these tissues.

In summary, Wilson disease is caused by mutations in the ATP7B gene that disrupt normal copper metabolism, leading to copper buildup in the body and associated symptoms.

What is the treatment for Wilson disease?

The treatment for Wilson disease aims to reduce copper accumulation in the body and prevent further damage. Treatment typically involves a combination of medications, dietary changes, and, in severe cases, liver transplantation. Here’s a detailed overview:

• Medications:
• Chelating Agents: Drugs like penicillamine and trientine are used to bind copper and facilitate its excretion through the urine. These medications help reduce copper levels in the body.
• Zinc: Zinc supplements can inhibit the absorption of copper from the diet and help lower copper levels. This is often used as a maintenance therapy after initial treatment with chelating agents.
• Dietary Changes:
• Low-Copper Diet: Patients are advised to avoid foods high in copper, such as shellfish, liver, nuts, chocolate, and certain whole grains.
• Liver Transplantation:
• In Severe Cases: For individuals with advanced liver damage or those who do not respond well to medication, a liver transplant may be necessary. This procedure replaces the damaged liver with a healthy one from a donor, effectively removing the source of excess copper.
• Regular Monitoring:
• Ongoing Care: Regular follow-up with a healthcare provider is essential to monitor copper levels, liver function, and overall health. Adjustments to medication and diet may be needed based on individual responses and disease progression.

Overall, early diagnosis and adherence to treatment can significantly improve outcomes and help manage Wilson disease effectively.