Dr GI Joe

This protocol provides a standardized, evidence-based framework for the diagnosis and management of esophageal motility disorders, grounded in the Chicago Classification v4.0. Its purpose is to equip gastroenterology fellows with a systematic approach to patient care, beginning with initial symptom evaluation and progressing through advanced diagnostic interpretation and therapeutic decision-making. By following this structured pathway, fellows can build the clinical reasoning necessary to navigate this complex field with confidence and precision.

A structured initial evaluation is strategically paramount in patients with suspected esophageal motor dysfunction. Before proceeding to specialized motility testing, clinicians must first systematically exclude structural, malignant, and inflammatory causes of esophageal symptoms. This critical step is essential to avoid misdiagnosis, prevent therapeutic errors, and ensure that definitive motility testing is applied to the appropriate patient population.

The stepwise diagnostic approach for a patient presenting with symptoms suggestive of an esophageal motility disorder is as follows:

Patients typically present with core symptoms such as dysphagia (difficulty swallowing, which can be to liquids, solids, or both), non-cardiac chest pain, refractory reflux symptoms, or regurgitation of undigested food. The presence of any of the following alarm features mandates an immediate upper endoscopy:

An EGD is the mandatory first-line investigation for any patient with dysphagia or other alarm features. Its primary purpose is to rule out structural pathology, including strictures, rings, webs, malignancy (pseudoachalasia), and eosinophilic esophagitis. While the primary goal is exclusion, secondary findings such as retained food, saliva, or a puckered esophagogastric junction (EGJ) may suggest an underlying motility disorder. The guiding principle remains: "Achalasia isn't achalasia until you scope it."

Following an unrevealing EGD, a barium esophagram is often the next logical step. This radiographic study is highly valuable for identifying classic patterns associated with specific motor disorders. A timed barium esophagram can further assess esophageal function by measuring contrast clearance at one, two, and five minutes.

HRM is the gold standard for definitively diagnosing and classifying esophageal motility disorders. It is indicated for patients with dysphagia and a normal EGD, for those with suspected motility issues based on a barium swallow, or for evaluating refractory GERD symptoms after structural and inflammatory causes have been excluded.

The Functional Lumen Imaging Probe (EndoFLIP) is an adjunctive technology performed during endoscopy to evaluate the distensibility of the esophagogastric junction. It provides complementary data to support a diagnosis of achalasia or EGJ outflow obstruction (EGJOO) but is not a replacement for HRM as the primary diagnostic tool.

Once structural etiologies have been thoroughly excluded and an indication for HRM is established, a systematic interpretation of the manometric data using the Chicago Classification framework is required to arrive at a precise diagnosis.

The Chicago Classification v4.0 provides the objective, standardized framework for interpreting HRM studies, ensuring a consistent and reproducible diagnostic approach. This framework is built upon a hierarchical analysis of three core manometric metrics that evaluate lower esophageal sphincter relaxation, peristaltic vigor, and peristaltic timing.

Integrated Relaxation Pressure (IRP): The IRP is the primary measure of EGJ relaxation following a swallow. An elevated IRP is the hallmark of impaired EGJ relaxation and points toward a disorder on the achalasia or EGJ outflow obstruction (EGJOO) spectrum.

Distal Contractile Integral (DCI): The DCI measures the vigor, or strength, of the esophageal body contraction. Its value (measured in mmHg·cm·s) categorizes peristalsis along a spectrum:

Distal Latency (DL): The DL measures the timing of the peristaltic wave, specifically the interval from the start of the swallow to the arrival of the contractile wave in the distal esophagus. A DL < 4.5 seconds is defined as a "premature contraction" and is the pathognomonic finding of distal esophageal spasm.

The Chicago Classification follows a clear, hierarchical algorithm:

Step 1: Analyze LES Relaxation (IRP). The first and most critical step is to evaluate the IRP. An elevated IRP immediately places the patient on the spectrum of EGJ outflow disorders (achalasia or EGJOO). A normal IRP rules out these conditions and directs the analysis toward disorders of peristalsis.

Step 2: Analyze Peristaltic Timing (DL) [if IRP is normal]. If the IRP is normal, the next step is to assess the timing of contractions. A premature DL (< 4.5 seconds in ≥20% of swallows) defines Distal Esophageal Spasm. If the timing is normal, the final step is to analyze contractile strength.

Step 3: Analyze Peristaltic Strength (DCI) [if IRP and DL are normal]. With normal EGJ relaxation and normal peristaltic timing, the DCI value differentiates between Hypercontractile (Jackhammer) Esophagus, Ineffective Esophageal Motility (IEM), and Absent Contractility.

This systematic, three-step process forms the foundation for accurately classifying the full range of esophageal motility disorders.

This section systematically details the major esophageal motility disorders as defined by the Chicago v4.0 criteria. For each disorder, this protocol outlines the definitive manometric findings, along with key clinical pearls and common diagnostic pitfalls to guide clinical decision-making.

These disorders are fundamentally characterized by impaired relaxation of the lower esophageal sphincter.

These disorders are characterized by normal LES relaxation but abnormal function of the esophageal body.

In addition to these manometrically-defined motor disorders, specific behavioral syndromes can also be identified during motility evaluation.

Not all symptoms of esophageal dysfunction stem from primary muscle or nerve pathology. Certain behavioral syndromes can mimic motility disorders and are distinguished by characteristic clinical and manometric features. Their recognition is critical, as they require an entirely different management approach.

Clinical Presentation: Patients describe an effortless, non-nauseous regurgitation of recently ingested food into the mouth, typically within minutes of eating. The food is often re-chewed and re-swallowed or spat out.

Characteristic Findings: HRM with impedance reveals a characteristic pattern of an abrupt rise in intra-gastric pressure from somatic abdominal wall contraction, followed by inappropriate LES relaxation and retrograde flow of gastric contents.

Differentiation: This pattern is distinct from vomiting, which is preceded by nausea and retching, and from GERD, which is typically delayed, nocturnal, and involves acidic reflux rather than recently ingested food.

Clinical Presentation: This syndrome is characterized by repetitive, often socially disruptive belching. The belches originate from air that is unconsciously sucked or aspirated into the esophagus from the pharynx, not from the stomach. The behavior often ceases with distraction or during sleep.

Characteristic Findings: HRM with impedance demonstrates the rapid entry of air into the esophagus from above (the pharynx), followed immediately by its expulsion.

Differentiation: This is distinct from gastric belching, which is the physiologic venting of air from the stomach via a transient LES relaxation.

The correct identification of these syndromes is essential for guiding patients toward appropriate, behavior-focused therapies, which will be detailed alongside treatments for motor disorders in the following section.

Treatment strategies for esophageal disorders are highly dependent on the specific diagnosis derived from the comprehensive evaluation. This section organizes therapeutic options by disorder, outlining first-line medical and procedural interventions and their underlying rationales.

To reinforce these concepts, the appendix consolidates the highest-yield clinical takeaways and common diagnostic pitfalls encountered in practice and on board examinations.

This section consolidates the most critical, high-yield points and common examination traps related to esophageal motility disorders to reinforce key concepts for clinical practice and board review.