Wilson disease (WD) is a rare, but treatable, autosomal recessive disorder of hepatic copper disposition. Onset of clinical disease can occur at any age, though mainly between 3 and 55 years old. Age alone is not a reason for discounting the diagnosis of WD. WD can present as hepatic disease, neurological movement disorders, or psychiatric disease.

In a patient with liver disease or typical neurologic features, the combination of subnormal serum ceruloplasmin (preferably <140 mg/dL) and elevated basal 24-h urinary copper excretion (>0.6 μmol/24 h or >40 μg/24 h) is highly suggestive of WD.

Genetic diagnosis is definitive but requires skilled interpretation. Treatment is lifelong and early diagnosis and treatment provide the best outlook. Discontinuing treatment altogether leads to severe refractory liver dysfunction; treatment should not be stopped during pregnancy. First-degree relatives must be investigated for WD once a single family member has been diagnosed with WD; genetic testing is most efficient.

Information about the service

Dr Gideon Hirschfield (Consultant Hepatologist) and Dr David Nicholl (Consultant Neurologist) hold a one-stop Wilson’s disease clinic at University Hospital Birmingham on a Friday morning four times a year. This clinic offers patients the opportunity to have their management reviewed by a hepatologist and a neurologist at the same time and is intended to supplement otherwise established care.

In a normal clinic appointment, the patient sees both the Consultants, has blood test, urine test and generally receives a prescription.

How to contact the service

Referrals must come from the hospital physician looking after the patient and should be addressed to Dr Hirschfield at Queen Elizabeth Hospital, Mindelsohn Way, Edgbaston, Birmingham, B15 2WB.