When the liver cannot excrete copper normally, it can lead to severe consequences. Copper deposits cause significant damage to the liver and brain.
Approximately one in 30,000 people suffers from Wilson’s disease, a genetic disorder. The disease is inherited in an autosomal recessive manner, meaning it affects both sexes equally and manifests only when an individual inherits two mutated genes—one from each parent. Over 300 different mutations responsible for Wilson’s disease have been identified in the relevant gene.
The root cause of Wilson’s disease is the liver’s reduced ability to excrete copper. Normally, the liver eliminates excess copper via bile into the intestines. In Wilson’s disease, this function is impaired, leading to copper accumulation first in the liver and later in specific brain regions, particularly the basal ganglia.
Typically present with liver dysfunction
More likely to show neurological symptoms
If symptoms suggestive of liver disease of unclear origin or Parkinson-like symptoms appear before the age of 45, Wilson’s disease should be considered. Early diagnosis is crucial, as it significantly improves the chances of symptom improvement.
Key diagnostic tests include various blood analyses. Typically, ceruloplasmin levels in the serum are reduced; this protein contains copper. Additionally, serum copper is decreased, while urinary copper levels are elevated. A liver tissue biopsy showing copper content exceeding 250 micrograms per gram of dry weight confirms the diagnosis. An eye examination may reveal a golden-brown to greenish discoloration at the corneal margin, known as the Kayser-Fleischer ring.
The primary treatment goal is to reduce the body’s copper levels using medications that remove excess copper. These include chelating agents (trientine and D-penicillamine) and zinc. Patients must adhere to this lifelong treatment regimen, including during pregnancy, as directed by their physician.
Regular monitoring of copper metabolism is essential, with evaluations at least every six months. Liver function tests (liver enzymes, ultrasound) and assessments of neurological symptoms are also necessary. In cases of acute liver inflammation leading to liver failure, a liver transplant may be required, which can effectively cure the disease by restoring normal copper excretion through the new liver.
The timing of diagnosis is critical for affected individuals. If copper accumulation hasn’t caused permanent organ damage, the prognosis is excellent. Early and consistent treatment can prevent organ damage entirely. Therefore, experts recommend that family members of affected individuals undergo appropriate testing. If the disease is detected before symptoms arise, zinc therapy alone may prevent its onset, but this should be discussed with a physician.
Consulting Expert: Professor Uta Merle, Senior Physician of Gastroenterology at the University Hospital Heidelberg.
