Achalasia in Children—Clinical Presentation, Diagnosis, Long-Term Treatment Outcomes, and Quality of Life

Abstract

Background: In spite of the introduction of peroral endoscopic myotomy (POEM), Heller myotomy (HM) remains the mainstay of treatment and the role of pneumatic dilatation (PD) is being debated. The aim of this study was to present a single-center experience in the diagnostic approach and treatment of esophageal achalasia (EA), including the long-term assessment of the QoL. Methods: Data collection was based on the retrospective analysis of clinical notes and prospective interviews with patients and their parents. Results: The study group consisted of 60 patients with EA (F: 26, M: 34), with a median age of 12.0 (1–17) years at diagnosis. The time from the first symptoms until the diagnosis was 1.0 year (0.5–2.0) and the most common were: regurgitation (91.3%), dysphagia (84.8%), and chest pain (47.8%). The diagnostic approach showed a high sensitivity for barium X-ray follow through, esophageal manometry, and endoscopy. Overall, a long-term good outcome of HM was achieved in 27 out of 37 patients (73%) and it was negatively affected by the time between the first symptoms and the diagnosis. Out of the 16 patients who underwent PD before HM, a good outcome was achieved in 14 patients (87.5%), compared to 13 out of 21 patients (62%) who only underwent HM (p = 0.22). Concomitant fundoplication was routinely performed, and 18% required post-operative endoscopic dilatation. At the end of the 12.1 (0.7–26.6)-year follow up, most patients had a good QoL, which significantly corresponded with the treatment outcomes. Conclusions: Patients suspected of EA should undergo a thorough clinical evaluation including a manometry, a barium X-ray, and an endoscopy. HM is a safe and effective treatment for achalasia and the outcome is not worsened by a preceding endoscopic PD. In most patients, HM alleviates symptoms, although an impaired QoL is common in long-term follow ups.

Peroral Endoscopic Myotomy for Pediatric Achalasia: A Retrospective Analysis of 21 Cases With a Minimum Follow-Up of 5 Years

“…The total long-term clinical success rate was 95.8%. This good outcome of POEM in children suggested superior to that in Heller’s myotomy and balloon dilatation ( 30 , 31 ). Children tend to have better treatment outcomes than adults, compared with a 5-year long-term success rate of 80–83% for adults ( 28 , 29 ).…”

Achalasia in Children and Adolescents

“…Children commonly present with dysphagia (36%-94%), regurgitation of undigested foods (76%-91%), vomiting (59%-100%) and chest pain (21%-48%). 5,8,[14][15][16][17][18][19][20] Notably, up to 76% of children present with weight loss and failure to thrive. 8,14,18,20,21 Children and their parents may report nocturnal symptoms particularly excessive drooling and pooling of saliva on the bed, vomiting and regurgitation, and cough necessitating sleeping in the upright position.…”

Esophageal Dysphagia in Children: State of the Art and Proposal for a Symptom-Based Diagnostic Approach

“…EGD can rise the suspicion of achalasia, and exclude pseudoachalasia, but is not diagnostic per se and may miss early disease. Abnormalities are present in the 90% of affected children with most common findings consisting of residual food in the esophagus (75%), closed stomach cardia (73%), esophageal enlargement (58%), and mucosal lesions (28%) (45). In patients with symptom relapse after surgery, EGD is useful to assess for reflux vs. recurrence of achalasia (30,31).…”

“…Virtually all children with achalasia present at least one typical BS feature; the most common consist of slow contrast transit through the esophagus into the stomach (96.1%), esophageal dilation (94.1%), "bird's beak" sign (82.4%), contrast retention in the esophagus (74%), and peristaltic anomalies (62%) (31,45,50). Besides providing excellent mucosal detail, BS is seldom used for the diagnosis of esophagitis and cannot establish or negate a diagnosis of GERD.…”