Background: The golden standard of Hirschsprung's disease diagnosis is through a histopathological examination of the aganglionic site. The significance of serum acetylcholinesterase (AChE) immunohistochemistry for diagnosing Hirschsprung's disease has been widely accepted. However, the study of serum AChE levels in Hirschsprung's disease patients is still scarce. We aimed to examine the serum levels of AChE in individuals with Hirschsprung's disease.
Methods: An analytical observational study with a cross sectional design was conducted on 29 patients with Hirschsprung's disease. We divided the patients into two groups: 14 in Hirschsprung's disease group and 15 in the control group. Serum AChE level was measured using the enzyme-linked immunosorbent assay (ELISA) method. The optimal cut-off value for detecting Hirschsprung’s disease was determined using the ROC analysis.
Results: The prevalence of Hirschsprung was higher in males than in females. The average AChE level in the Hirschsprung group was 95.89 ± 51.11 Units/mL, while the average level of AChE in the control group was 44.45 ± 33.40 Units/mL. The optimal cut-off value was 46.615 Units/mL. We found that this study's sensitivity, specificity, positive predictive value, negative predictive value, and accuracy values were 83.3%, 70.6%, 66.7%, 85.7%, and 75.9%, respectively. There was a significant relationship between serum AChE levels and Hirschsprung's disease (p=0.004).
Conclusion: The AChE levels in blood serum can be used as an alternative diagnostic parameter for Hirschsprung's disease. Patients with Hirschsprung's disease had higher serum AChE levels than patients without Hirschsprung's disease.