Clinical Manifestations of Achalasia
The cardinal clinical manifestations of achalasia are dysphagia to both solids and liquids, regurgitation, chest pain, and weight loss, occurring as a result of absent peristalsis and impaired lower esophageal sphincter relaxation. 1, 2, 3
Primary Symptoms
Dysphagia is the most common presenting symptom, occurring in approximately 84% of patients, and characteristically affects both solids and liquids from the outset—a key distinguishing feature from mechanical obstruction. 2, 4, 5
Regurgitation of undigested food and saliva is a prominent feature, often occurring postprandially and manifesting in 13-84% of patients depending on disease stage. 2, 4, 5 This occurs because food and fluid retention leads to fermentation and chronic inflammation within the dilated esophagus. 6
Chest pain is frequently reported and results from esophageal pressurization patterns and spasm, particularly in Type II and Type III achalasia subtypes. 1, 2, 3
Weight loss develops progressively as dysphagia worsens and caloric intake becomes compromised. 2, 3
Secondary Clinical Features
Pulmonary symptoms including cough, aspiration, and recurrent chest infections occur due to regurgitation of retained esophageal contents, particularly during recumbency. 7, 5
Abdominal fullness and belching may be present as patients attempt to compensate for impaired esophageal emptying. 5
Heartburn can paradoxically occur despite impaired LES relaxation, related to fermentation of retained food rather than true acid reflux. 8
Variation by Disease Subtype
The clinical presentation varies based on Chicago Classification subtype, though all share the core symptom triad. 1, 9
Type I achalasia (classic achalasia with minimal pressurization) represents end-stage disease with a decompensated, dilated esophagus and often presents with more severe regurgitation and weight loss. 9
Type II achalasia (panesophageal pressurization) is the most common presenting subtype and typically demonstrates the full constellation of symptoms with prominent chest discomfort. 1, 9
Type III achalasia (premature spastic contractions) presents with particularly severe chest pain due to vigorous non-peristaltic contractions. 9
Temporal Evolution
Symptoms are typically present for an average of 0.5 to 2.8 years before diagnosis is established, reflecting the insidious progressive nature of the disease. 6, 5 The disease evolves over a variable timespan from early subtle symptoms to severe manifestations when left untreated, with progressive esophageal dilation and structural remodeling occurring from prolonged outflow obstruction. 6
Critical Diagnostic Pitfalls
Early in the disease course, symptoms may be subtle and manometric findings may not meet full diagnostic criteria, as the IRP can be less than the upper limit of normal particularly in Type I disease. 1, 6 This can lead to missed or delayed diagnosis.
Late in the disease, both LES pressure and IRP might be very low, potentially mimicking absent contractility rather than achalasia, requiring functional luminal imaging for accurate diagnosis. 1