Role of Biochemical Testing in Wilson’s Disease Diagnosis
Biochemical testing forms the foundation of Wilson’s disease diagnosis. These tests evaluate copper metabolism and help distinguish Wilson’s disease from other hepatic or neurological conditions.
Ceruloplasmin measurement is often the first step. Ceruloplasmin is a copper-binding protein, and low levels are commonly associated with Wilson’s disease. However, ceruloplasmin may be reduced in other conditions, so results must be interpreted with caution.
Serum copper levels can be deceptive. While total serum copper is often low due to reduced ceruloplasmin, free copper levels may be elevated and toxic. This imbalance contributes to tissue damage.
Twenty-four-hour urinary copper excretion is a reliable diagnostic indicator. Elevated urinary copper reflects excessive copper accumulation and impaired excretion, making it a valuable diagnostic marker.
Liver function tests often show abnormalities, especially in patients with hepatic involvement. Elevated transaminases, bilirubin, or signs of liver failure may prompt further investigation.
Together, these biochemical tests provide essential diagnostic insight. When combined with clinical findings and imaging, they significantly improve diagnostic confidence.