Low serum alkaline phosphatase activity in Wilson's disease

Area of Science:

• Biochemistry
• Hepatology
• Hematology

Background:

• Wilson's disease is a rare genetic disorder of copper metabolism leading to toxic copper accumulation.
• Acute presentation can involve severe liver disease and Coombs'-negative hemolytic anemia.
• Serum alkaline phosphatase (ALP) is a common biomarker for liver function and bone turnover.

Observation:

• Two patients with Wilson's disease and severe liver disease/hemolytic anemia exhibited low serum ALP activity.
• Review of 12 similar cases showed 11 had below-average serum ALP, with 8 below the normal range.
• Low serum ALP was less frequent in chronic Wilson's disease presentations.

Findings:

• Serum alkaline phosphatase activity is significantly reduced in a majority of Wilson's disease patients presenting with acute hemolytic anemia.
• This reduction is more pronounced than in patients with chronic Wilson's disease.
• In vitro copper addition did not affect serum ALP, suggesting the mechanism is in vivo.

Implications:

• Low serum ALP may serve as an early diagnostic clue for Wilson's disease, especially in patients with unexplained hemolytic anemia.
• This biomarker could prompt earlier investigation for Wilson's disease in at-risk individuals.
• Further research is needed to elucidate the precise mechanism behind reduced serum ALP in this context.