Role of Erythrocyte Acetylcholinesterase in the Diagnosis of Hirschsprung's Disease.

BACKGROUND: Serological tests have not been validated in the diagnosis of Hirschsprung's disease. The aim of the present study was to evaluate the role of erythrocyte acetylcholinesterase in the diagnosis of Hirschsprung's disease. METHODS: This study was a prospective study conducted on 30 patients clinically suspected to have Hirschsprung's disease who were admitted in a tertiary care referral center in Srinagar, India. All patients had erythrocyte acetylcholinesterase measured and underwent a full thickness rectal biopsy. RESULTS: In our study, the mean (± standard deviation) age at presentation was 3.51 ± 0.4 years. Most patients were males (76.7%). Rectal biopsy was considered as the gold standard for the diagnosis of Hirschsprung's disease with absent ganglion cells in 22 (73.3%) and absent ganglion cells with nerve hypertrophy in other 4 (13.3%) patients. Preoperative erythrocyte acetylcholinesterase had a diagnostic accuracy of 66.7% and a sensitivity of 84.6% with a specificity of 75%, positive predictive value (PPV) of 95.6% and negative predictive value (NPV) of 42.9%. Mean postoperative acetylcholinesterase levels were 11.5 KU/L, significantly lower than the mean preoperative levels of 17.6 KU/L (p < 0.05). CONCLUSION: Erythrocyte acetylcholinesterase can be used as an initial screening test in clinically suspected cases of Hirschsprung's disease due to its high sensitivity. It confers an additional advantage in that it is comparatively non-invasive and does not require any preparation. [ABSTRACT FROM AUTHOR]