Clinical application value of droplet digital PCR detection of Em-cfDNA in the diagnosis of hepatic alveolar echinococcosis

BACKGROUND: Alveolar echinococcosis (AE), a parasitic disease caused by the Echinococcus multilocularis (E. multilocularis), primarily affects the liver and has the potential to spread to other organs, which can be quite invasive. This disease has been receiving increasing attention on a global scale. The objective of this study is to evaluate the clinical value of droplet digital polymerase chain reaction (ddPCR) technology in the diagnosis of hepatic alveolar echinococcosis (HAE) through the detection of plasma and to explore the relationship between ddPCR quantitative results and lesion size and staging. METHODS: Researchers collected blood samples from 57 confirmed HAE patients and 34 control samples from individuals without AE. Subsequently, ddPCR was utilized to detect E. multilocularis circulating free DNA (Em-cfDNA) in the plasma. Furthermore, next-generation sequencing (NGS) and antibody tests were utilized as comparative methods. RESULTS: The sensitivity of ddPCR was found to be 91.22 %, with a 100 % specificity, thereby demonstrating superiority over conventional serum antibody tests, which exhibited a sensitivity of 89.50 % and a specificity of 85.3 %. ddPCR demonstrated a comparable performance to NGS testing, which also demonstrated a sensitivity of 89.50 % and a 100 % specificity. CONCLUSIONS: ddPCR is characterized by its ease of operation and cost-effectiveness. It also holds significant value for screening in resource-limited areas, thereby helping to improve early diagnosis rates for HAE and enhance patient prognosis. Subsequent research endeavors will concentrate on the refinement of this technology and the validation of its applications in the domains of diagnosis, monitoring, and follow-up.