Wilson's disease treatment and diagnostics abroad

Wilson's disease (hepatolenticular degeneration) is a rare inherited disorder in which copper builds up in the body. It mainly affects the liver, the brain and the cornea of the eye. Untreated, it leads to severe liver failure and neurological problems; with timely treatment most patients lead a full life.

Below are clinics abroad that diagnose and treat Wilson's disease: compare their capabilities, doctors and prices.

Causes of Wilson's disease

The body needs copper in small amounts; normally the liver removes the excess into bile. In Wilson's disease a mutation in the ATP7B gene disrupts this process, so copper gradually builds up in the liver and later in the brain, eyes, kidneys and other organs.

The disease is inherited in an autosomal recessive pattern: a child is affected only if they inherit the altered gene from both parents. Carriers of one gene are healthy. It affects about one person in 30,000 and usually appears between the ages of 5 and 35.

Symptoms

Liver involvement

• weakness, fatigue, loss of appetite;
• jaundice, abdominal pain;
• swelling and fluid in the abdomen (ascites);
• easy bruising and bleeding;
• acute hepatitis or acute liver failure — sometimes the first sign of the disease.

Wilson's disease should be considered in any unexplained liver disease, especially in young people.

Neurological and psychiatric signs

• tremor, stiffness, slow movements;
• problems with speech and swallowing, drooling;
• poor coordination and handwriting;
• mood and behaviour changes, depression, falling school performance.

Eye signs

A typical sign is Kayser–Fleischer rings: a golden-brown ring at the edge of the cornea. They are found in almost all patients with neurological symptoms and in about half of those with liver disease only.

Diagnosis

• blood tests: liver function, ceruloplasmin and copper levels;
• 24-hour urinary copper;
• slit-lamp eye examination;
• brain MRI when there are neurological symptoms;
• liver biopsy with copper measurement — in unclear cases;
• ATP7B genetic testing — to confirm the diagnosis and to screen the patient's siblings.

Treatment of Wilson's disease

Treatment is lifelong and has two goals: to remove excess copper and to prevent it from building up again.

• Copper chelators — penicillamine or trientine — bind copper and remove it in the urine. Regular blood and urine tests are needed because of possible side effects.
• Zinc reduces copper absorption from food; it is used for maintenance or in patients without symptoms.
• Diet limiting copper-rich foods (liver, shellfish, nuts, chocolate).
• Liver transplantation — for acute liver failure or severe cirrhosis when medicines do not help.

Neurological symptoms often improve with proper treatment but persist in some patients, so it is important to start treatment as early as possible.

Why patients choose treatment abroad

• experience in diagnosing rare diseases and genetic confirmation of the diagnosis;
• a multidisciplinary team: hepatologist, neurologist, ophthalmologist and geneticist;
• liver transplant programmes for severe cases.

See clinics in the gastroenterology, neurology and transplantology sections.

Send a request with your test results — Clinics Direct coordinators will help you get a specialist's opinion and a treatment plan abroad free of charge.