Background:
Currently, the diagnosis of achalasia mainly relies on invasive or radioactive examinations. This study aimed to develop a noninvasive diagnostic method for achalasia based on specific serum markers.
Methods:
Serum levels of profilin-1, galectin-10, immunoglobulin heavy variable (IGHV) 3-9, vasodilator-stimulated phosphoprotein (VASP) and transgelin-2 were measured in achalasia patients and controls by enzyme linked immunosorbent assay. The diagnostic values and thresholds were determined by the receiver operating characteristic curve analysis. Then, dysphagia patients were prospectively enrolled to validate the ability of these molecules for achalasia diagnosing.
Results:
142 achalasia patients and 50 non-achalasia controls (healthy volunteers (HVs) and reflux esophagitis (RE) patients) were retrospectively included. The serum levels of profilin-1, galectin-10 and transgelin-2 in achalasia patients were significantly higher than those in HVs and RE patients (p all < 0.001). Profilin-1, galectin-10 and transgelin-2 were of good performance in diagnosing achalasia, with optimal thresholds of 2171.2 pg/ml, 33.9 pg/ml and 1630.6 pg/ml, respectively. Secondly, 40 dysphagia patients were prospectively enrolled to the validation of achalasia. For profilin-1, the positive predictive value (PPV), negative predictive value (NPV), sensitivity and specificity were 100.0%, 64.5%, 45.0% and 100.0% respectively. The figures for transgelin-2 were 65.5%, 90.9%, 95.0% and 50.0%. When both increased, the PPV reached to 100.0%. When both indexes were normal, the NPV was 100.0%.
Conclusions:
Profilin-1 and transgelin-2 were promising biomarkers for achalasia diagnosis, and performed better in combination. Further multicenter studies are necessary to verify their application as preliminary screening tools for achalasia.