[A primer on Wilson disease for the general practitioner].

Area of Science:

• Genetics
• Hepatology
• Neurology

Background:

• Wilson disease (WD) is an inherited disorder characterized by impaired hepatic copper excretion.
• This leads to toxic copper accumulation in the liver, brain, cornea, and other organs.
• The underlying defect is caused by mutations in the copper-transporting ATPase gene, ATP7B.

Purpose of the Study:

• To summarize the key aspects of Wilson disease, including its genetic basis, clinical presentation, diagnosis, and management.
• To highlight the variability in clinical manifestations and diagnostic challenges.
• To provide an overview of current treatment strategies.

Main Methods:

• Review of existing literature on Wilson disease.
• Analysis of clinical manifestations, genetic defects, diagnostic criteria, and treatment options.
• Synthesis of information regarding hepatic copper excretion and ATP7B mutations.

Main Results:

• Clinical manifestations of WD are highly variable, ranging from acute liver failure to chronic hepatitis, cirrhosis, and neurological/psychiatric symptoms.
• The Kayser-Fleischer corneal ring is a diagnostic sign but is absent in approximately 50% of patients with hepatic-only disease.
• Diagnosis relies on a high index of suspicion combined with laboratory tests.

Conclusions:

• Wilson disease requires a high index of suspicion for diagnosis, supported by laboratory testing.
• Treatment involves chelating agents like D-penicillamine or trientine.
• Liver transplantation is reserved for patients with acute liver failure or advanced cirrhosis.