Table I: Symptoms associated with Achalasia Cardia
Studies have emphasized the difficulties in diagnosing achalasia, especially in young adults, due to its diverse presentation and resemblance to other esophageal conditions.15 Early identification remains a challenge as achalasia is rare and is often diagnosed late. In addition to this, its symptoms are frequently mistaken for GERD, leading to delayed diagnosis. Misdiagnosis may result in prolonged symptom duration which necessitates additional diagnostic assessments.16
The patient in this case study, a 22-year-old woman, had symptoms of dysphagia and regurgitation. She was initially diagnosed with gastroesophageal reflux disease and treated with antacid gel and a proton pump inhibitor for two years , but these treatments did not alleviate her symptoms. Subsequent tests, including manometry, a barium esophagogram, and a gastroscopy, suggested a diagnosis of Type II Achalasia cardia.12 Diagnosis of achalasia relies on clinical symptoms and imaging studies like barium swallow and esophageal manometry.8 A barium esophagogram is the best initial test, showing classic findings such as the ”bird’s beak” appearance, and esophageal dilation.9 Esophageal manometry is the most sensitive test and remains the gold standard, with high-resolution manometry being the preferred method which shows absent peristalsis.10 Upper GI endoscopy is recommended to exclude malignancy
The objective of achalasia therapy is to alleviate symptoms by eliminating outflow resistance, which is caused by the hypertensive and non-relaxing lower esophageal sphincter (LES).17 Both non-surgical options like pharmacotherapy and Botox injection, and surgical techniques such as pneumatic dilation, laparoscopic Heller myotomy, and per-oral endoscopic myotomy (POEM) are available treatments for achalasia.11 Only about 10% of patients benefit from pharmacological treatment and it is typically used in elderly patients who are not suitable for pneumatic dilatation or surgery. Endoscopic treatment involves injecting botulinum toxin into the LES to block acetylcholine release and restore the balance between excitatory and inhibitory neurotransmitters. However, this treatment has limited value, and only about 30% of patients experience relief of dysphagia one year after treatment. Most patients require repeated botulinum toxin injections.18 Pneumatic dilatation, performed by a qualified gastroenterologist, is the recommended treatment for sporadic cases where surgery is not appropriate.19 In our case, the patient was given the option of pneumatic dilatation or Heller’s myotomy. She had chosen pneumatic dilatation over Heller’s myotomy. The PBD procedure commenced with the patient sedated with continuous vital signs monitoring. After balloon dilation, post-procedure examination showed improved LES function without significant complications.
The patient showed clinical improvement with relief of dysphagia, regurgitation, and heartburn symptoms after the treatment and was discharged. She was advised to adopt lifestyle changes, like eating small meals while upright to aid food passage by gravity and avoiding lying flat but instead maintaining an angle of 30 to 45 degrees to reduce the risk of aspiration. The patient was planned to follow up after 6 months with upper GI endoscopy and manometry in the outpatient clinic. Regular endoscopic surveillance is necessary in this case as there is a risk of transformation to esophageal carcinoma.20 It’s important to recognize that current treatments for achalasia are aimed at easing symptoms like regurgitation, chest pain, and difficulty swallowing, as well as preventing complications such as megaesophagus, weight loss, and gastroesophageal reflux disease.21