Achalasia cardia: A case report in young female

This case emphasizes the need for early recognition and accurate diagnosis of achalasia in young adults to avoid exacerbation of the condition and misdiagnosis as GERD. Patient outcomes and quality of life are greatly enhanced by suitable diagnostic techniques, appropriate therapy, interdisciplinary care, and comprehensive patient education along with frequent follow-ups.

Achalasia results from the degeneration of inhibitory ganglion cells within the esophageal myenteric plexus and the lower esophageal sphincter (LES), leading to a loss of inhibitory neurons and resulting in the absence of peristalsis with failure of LES relaxation. Its origins are multifactorial, potentially involving infections, autoimmune responses, and genetics, with equal incidence in males and females. The hallmark symptoms include progressive dysphagia for solids and liquids, along with regurgitation, heartburn, and non-cardiac chest pain. A 22-year-old female patient initially diagnosed with gastroesophageal reflux disease (GERD) received proton pump inhibitors and antacid gel for persistent dysphagia and regurgitation. Subsequent tests including barium esophagogram and manometry indicated Type II Achalasia Cardia. The patient showed clinical improvement with relief of dysphagia, regurgitation, and heartburn symptoms after pneumatic balloon dilatation (PBD). She was advised to follow up after 6 months with upper gastrointestinal (UGI) endoscopy and manometry in the outpatient clinic for regular endoscopic surveillance as there is a risk of transformation to esophageal carcinoma. Diagnosing achalasia in young adults poses challenges due to its diverse presentation and resemblance to other esophageal disorders like GERD. Diagnosis relies on clinical symptoms and imaging studies such as barium esophagogram revealing a bird's beak appearance and esophageal manometry showing absent peristalsis. UGI endoscopy is needed to rule out malignancy. Treatment options include non-surgical approaches like medication and Botox injections, as well as surgical methods such as pneumatic balloon dilation, laparoscopic Heller myotomy, and per-oral endoscopic myotomy (POEM). The treatment options depend upon the patient's condition at presentation and their individual choices. This case report emphasizes that it is crucial to consider achalasia as a potential differential diagnosis in young adults with dysphagia, especially if conventional treatments for acid peptic disorder do not alleviate symptoms. Prompt diagnosis and appropriate management can lead to significant clinical improvement and better patient outcomes.