Wilson’s disease is caused by a mutation in the gene responsible for transporting copper in the body. It usually serves to remove excess copper through the biliary tract. However, in patients with this disease, the gene does not function properly, leading to copper accumulation in the liver and other tissues.

Copper accumulating in the brain can cause various neurological manifestations such as tremors, movement coordination disorders, psychiatric disorders, and even epileptic seizures. Children may experience stunted growth and development.

The disease manifests in families with a recessive type of inheritance. This means that two defective copies of the gene – one from each parent – are required for the disease to develop. If only one parent passes on the defective gene, the child will carry the mutation but will not have an active form of the disease.

Diagnosis at MDI Clinic

The doctor begins the diagnostic process by interviewing the patient and taking into account the patient’s medical history. It is important to find out if there are any signs and symptoms that could indicate the disease.

The specialist examines the patient, including palpation of the abdomen, to look for an enlarged liver (hepatomegaly) and spleen (splenomegaly).

Patients in diagnostic measures are necessarily tested to assess copper and medio-binding protein (ceruloplasmin) levels. Ceruloplasmin is often reduced in patients with the disease.

Elevated levels of copper in the urine may indicate disease. Abdominal ultrasound may be performed to assess the size of the liver and spleen and to detect other changes in the liver.