Achalasia - a challenging diagnosis
Juliano Lentz Carvalho1, Taylor L. Garza2, Gabriel Reep3, Gal Levy4.
1Department of Surgery, The University of Texas Medical Branch, Galveston, TX, USA, 2School of Medicine, The University of Texas Medical Branch, Galveston, TX, USA, 3Department of Gastroenterology, The University of Texas Medical Branch, Galveston, TX, USA, 4Division of Cardiovascular and Thoracic Surgery, Department of Surgery, The University of Texas Medical Branch, Galveston, TX, USA.
OBJECTIVE: Achalasia is a primary esophageal motor disorder for which the diagnosis is often missed or delayed. We implemented a systematic algorithm in June 2019 and proceeded to review our outcomes.
This was a retrospective single institution chart review between 12/2019-02/2021 of patients who presented through our foregut workup algorithm and were subsequently diagnosed with appropriate testing using the algorithm pathway.
Eight patients with achalasia were identified, with median age at diagnosis 69.5 years (range 49 - 79). Seven (87.5%) patients had upper gastrointestinal symptoms. Dysphagia was the presenting symptom in 7 (87.5%) patients, and one patient presented with early satiety and regurgitation. Period between symptom onset and diagnosis was at least 9 years in 5 (62.5%) patients, and only 2 (25%) patients were diagnosed within one year of symptoms. All patients underwent thorough workup involving endoscopy and high-resolution manometry. Two (25%) patients were found to have type I achalasia, 6 (75%) had type II achalasia, and one (12.5%) had esophageal outflow obstruction with weak peristalsis on manometry. Causes for delay in diagnosis included assumption of GERD as the cause of symptoms and incomplete diagnostic workup at onset of symptoms. Five patients underwent robotic assisted Heller myotomy and experienced no symptom recurrence on follow-up.
Patients with achalasia may have their diagnosis delayed due to incorrect assumption of GERD as cause of symptoms as well as incomplete previous workup. Low threshold for referral to a foregut program is advised to prevent missed diagnosis and development of complications.
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