Life-threatening end-stage achalasia – a case report of neglected dysphagia

Abstract

Achalasia is a rare oesophageal dysmotility disorder characterised by the absence of peristalsis and impaired lower oesophageal sphincter (LOS) relaxation. Delayed diagnosis is common, often due to the misinterpretation of symptoms for more common conditions like gastro-oesophageal reflux, leading to significant morbidity and reduced quality of life. This case emphasises the importance of diagnosing achalasia timeously and highlights diagnostic modalities and therapeutic options currently used.

A 37-year-old patient with a 12-year history of progressive dysphagia, weight loss, and severe dental decay presented after a syncopal episode. The workup revealed severe dehydration, refractory hyperkalaemia, and renal failure requiring haemodialysis. Further investigations demonstrated advanced achalasia with a dilated sigmoid oesophagus. High-resolution manometry (HRM) confirmed type I classic achalasia. The patient underwent a laparoscopic Heller myotomy (LHM) after nutritional stabilisation.

This case underscores the difficulty of diagnosing achalasia, especially in its early stages, where symptoms may be mistaken for reflux disease. Misdiagnosis delays appropriate treatment, leading to significant morbidity, including malnutrition. Dental erosions may also occur due to the frequent regurgitation of fermented food. A high index of suspicion coupled with proper diagnostic investigations, such as HRM and imaging, is essential for timely diagnosis and management. Surgical options like LHM remain the gold standard treatment for type I achalasia.

Achalasia, though rare, should be considered in patients with unexplained dysphagia and associated symptoms. A timely diagnosis can prevent complications such as malnutrition and oesophageal damage. Physicians must recognise atypical presentations and consider HRM in cases with refractory symptoms to ensure early intervention and optimal outcomes.