Wilson Disease: Symptoms, Causes and Treatment

Wilson Disease, a rare genetic disorder, disrupts the body's ability to regulate copper, leading to its accumulation in the liver, brain, and other vital organs.

Wilson Disease is a hereditary condition caused by mutations in the ATP7B gene, responsible for copper transport. This genetic anomaly leads to excessive copper buildup, damaging tissues and organs over time. Understanding the disease is crucial for early detection and effective management.

Symptoms of Wilson Disease

Early Signs and Symptoms

The Wilson disease symptoms can vary significantly among individuals, often making early diagnosis challenging. Early symptoms typically manifest between the ages of 5 and 35 but can appear at any age. Recognizing these early signs is vital for timely intervention.

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Hepatic Symptoms: Liver-related symptoms are among the earliest indicators, including jaundice, fatigue, abdominal pain, and swelling in the legs and abdomen due to fluid accumulation.
Neurological Symptoms: Patients may experience tremors, poor coordination, difficulty speaking, and personality changes.
Psychiatric Symptoms: Mood swings, depression, anxiety, and cognitive difficulties are common.
Hematological Symptoms: Anemia and easy bruising due to impaired liver function.

Advanced Symptoms

As Wilson Disease progresses, symptoms become more pronounced and can lead to severe complications if left untreated.

Liver Damage: Cirrhosis and liver failure may develop, necessitating a liver transplant.
Neurological Deterioration: Severe motor control issues, dystonia, and muscle stiffness.
Psychiatric Decline: Worsening mental health issues, including psychosis and severe depression.

Causes and Risk Factors of Wilson Disease

Wilson Disease is an autosomal recessive disorder, meaning an individual must inherit two defective genes (one from each parent) to develop the disease. Understanding the Wilson Disease causes and risk factors is essential for familial screening and prevention.

Genetic Mutation: Mutations in the ATP7B gene impair copper transport, leading to accumulation.
Family History: A family history of Wilson's Disease increases the risk, highlighting the importance of genetic counselling.

Diagnosis of Wilson Disease

Initial Assessment

Wilson Disease diagnosis requires a thorough clinical evaluation, combining medical history, physical examination, and laboratory tests.

Blood and Urine Tests: Measurement of serum ceruloplasmin (a protein that carries copper in the blood) and 24-hour urinary copper excretion.
Liver Function Tests: Assess the extent of liver damage and function.

Radiological and Advanced Diagnostic Techniques

Radiology plays a pivotal role in diagnosing Wilson Disease, particularly in assessing the extent of organ involvement.

Liver Biopsy: Histological examination to confirm copper accumulation in liver tissue.
Magnetic Resonance Imaging (MRI): Detects neurological changes and copper deposits in the brain.
CT Scan: Evaluates liver size and structure.

Treatment Options for Wilson Disease

Early and effective Wilson Disease treatment is essential to prevent organ damage and manage symptoms. Treatment primarily focuses on reducing copper buildup and maintaining a healthy balance in the body.

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Chelating Agents: Medications like Penicillamine and Trientine help remove excess copper by promoting its excretion through urine.
Zinc Therapy: Zinc acetate blocks copper absorption in the intestines, preventing further accumulation and is often used for maintenance therapy.
Dietary Modifications: Patients are advised to follow a copper-restricted diet, avoiding foods like shellfish, nuts, chocolate, and mushrooms.
Symptomatic Management: Depending on the severity, additional treatments such as physical therapy for neurological symptoms and psychiatric medications for mood disorders may be required.
Liver Transplantation: In severe cases where liver failure occurs, a liver transplant may be necessary to restore normal function.

Prevention and Management

While Wilson's Disease cannot be prevented due to its genetic nature, early detection through family screening and genetic counselling can mitigate its impact.

Genetic Counseling: It is crucial for at-risk families to understand inheritance patterns and potential risks.
Regular Monitoring: Continuous assessment of copper levels, liver function, and neurological status.

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Frequently Asked Questions

Yes, Wilson Disease can impact fertility and pregnancy, but with proper treatment, many women can conceive and have a healthy pregnancy. Close medical supervision is essential.

With early diagnosis and lifelong treatment, individuals with Wilson Disease can have a normal life expectancy. Delayed treatment may lead to severe complications, reducing life expectancy.

Yes, in some cases, Wilson Disease can lead to kidney issues such as kidney stones, renal tubular dysfunction, or proteinuria due to copper accumulation.

Yes, Kayser-Fleischer rings, a copper buildup in the cornea, are a key diagnostic sign. These rings may not affect vision but indicate excessive copper accumulation.

Yes, copper buildup can weaken bones, increasing the risk of osteoporosis, fractures, and joint pain. Regular bone density monitoring and calcium supplementation may be recommended.

No, lifestyle changes like a low-copper diet can help, but medications are necessary to prevent copper buildup. Stopping treatment can lead to severe complications.