Description

Wilsons disease (WD) is a member of a family of
genetic disorders characterised by deranged copper
metabolism. Inheritance is autosomal recessive, and
mutations lead to dysfunction of a key Copper-transporting
protein, the p-type ATPase ATP-7B. The consequence is
accumulation of copper in susceptible tissues, particularly the
liver and the basal ganglia of the brain, which may in turn
give rise to symptomatic hepatic and/or neuropsychiatric
disease. Patients with liver disease tend to present in the first
two decades of life, whereas those with primarily neurologic
manifestations tend to present later. Presentation with
fulminant liver failure due to hepatic decompensation may
require liver transplantation. Haemolytic disease is a rare
presenting complaint. Although laboratory investigations
have traditionally centred on measurement of free and total
copper and caeruloplasmin in serum, and copper levels in
urine both with and without penicillamine challenge, recent
reports demonstrate that there may be a role for genotyping
studies in diagnosis and characterization of WD.
Radiocopper uptake studies have fallen out of favour,but a
new approach using stable isotopes shows promise.
Treatment is focused upon limiting copper accumulation,
using Penicillamine. Zinc Acetate or Trientine offer
alternatives if Penicillamine is not tolerated. Despite the fact
that untreated WD is inevitably fatal, prognosis is generally
good once the diagnosis is made, and it is this that mandates
a high index of clinical suspicion in cases when there is
unexplained liver or neurological disease in children, or in
adults below 45 years of age.