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The overuse of serum ceruloplasmin measurement

Elliot B Tapper1, David O Rahni, Ramy Arnaout

  • 1Division of Gastroenterology, Beth Israel Deaconess Medical Center, Boston, Mass.

The American Journal of Medicine
|August 20, 2013
PubMed

Insights

Current ceruloplasmin testing for Wilson disease often misses diagnostic guidelines, leading to low positive predictive value and wasted resources. Adhering to guidelines can improve test performance and healthcare efficiency.

Area of Science:

  • Medical Diagnostics
  • Clinical Chemistry
  • Hepatology

Background:

  • Wilson disease is a rare genetic disorder affecting approximately 3 in 100,000 individuals.
  • Ceruloplasmin testing is frequently used to investigate elevated liver enzymes.
  • Guidelines recommend screening for Wilson disease in patients aged 3-55 with unexplained liver abnormalities.

Purpose of the Study:

  • To evaluate adherence to clinical guidelines for ceruloplasmin testing.
  • To assess the clinical and economic impact of current ceruloplasmin testing practices.
  • To analyze the diagnostic performance of ceruloplasmin assays in a real-world setting.

Main Methods:

  • Retrospective review of 5325 ceruloplasmin measurements from 2003-2011.
  • Analysis of patient demographics, including age and diagnostic indications.
  • Evaluation of test performance metrics such as positive predictive value and false-positive rates.

Main Results:

  • Only 0.16% of tests led to new Wilson disease diagnoses.
  • Ceruloplasmin testing demonstrated a low positive predictive value (8.4%) and a high false-positive rate (98.1%).
  • A significant proportion of tests (20.8%) were performed in patients over 55 years old, who did not have Wilson disease, and many positive results were not followed up.

Conclusions:

  • Current ceruloplasmin testing practices show poor adherence to established guidelines.
  • Widespread, non-specific testing leads to inefficient healthcare resource utilization.
  • Implementing guideline-directed ceruloplasmin testing can enhance diagnostic accuracy and reduce healthcare costs.
Abstract

Keywords:
GuidelinesHepatitisLiver diseaseWilson disease

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