Whom and how to screen for Wilson disease

Area of Science:

• Genetics
• Hepatology
• Neurology

Background:

• Wilson disease is a genetic disorder characterized by impaired hepatic copper excretion.
• Copper accumulation in tissues leads to variable clinical manifestations, from asymptomatic cases to severe liver or neurological disease.
• Diagnosing Wilson disease is challenging due to its heterogeneous presentation.

Purpose of the Study:

• To outline diagnostic criteria for Wilson disease.
• To emphasize the need for a multi-faceted diagnostic approach.

Main Methods:

• Clinical assessment including Kayser-Fleischer rings and neurological symptoms.
• Biochemical tests: serum ceruloplasmin, liver copper content, urinary copper excretion.
• Genetic mutation analysis.

Main Results:

• No single test is pathognomonic for Wilson disease.
• A combination of clinical findings and biochemical/genetic tests is necessary.
• A diagnostic sum score, incorporating various test results and clinical symptoms, can confirm the diagnosis (score ≥ 4).

Conclusions:

• Wilson disease diagnosis relies on integrating clinical suspicion with a comprehensive panel of diagnostic tests.
• A systematic scoring approach aids in confirming the diagnosis when presented with variable clinical scenarios.