Faculty Development Case of the Month: February 2021

Please view the February 2021 Case of the Month below:

Submitted by:
Jason M. Brown, MD
Assistant Professor, Division of Digestive Diseases
Department of Medicine, Emory University School of Medicine

“Just Give ‘Em a PPI!”
STORY AND CASE

A 51-year-old female was referred to our clinic for evaluation of long-standing heartburn and new onset hoarse voice. Our clinic saw her 7 years ago for evaluation of heartburn. At that time, she underwent esophagogastroduodenoscopy (EGD), which was completely normal; she was then lost to follow up.

Her symptoms persisted throughout this time despite intermittent trials of various acid suppressing medications (antacids, histamine 2 receptor antagonists, and proton pump inhibitors). She described a non-exertional, retrosternal, burning discomfort periodically throughout the day, especially after meals. A cardiac work up was negative 1 year ago.

Over the past 2 months, she has noted an increasingly hoarse voice. Recent laryngoscopy by ENT revealed cobble stoning of the mucosa, and the patient once more embarked on a trial of PPI twice daily to no avail.

We discontinued the acid suppression and repeated an EGD which again showed no evidence of erosive esophagitis. Biopsies taken at that time were negative for evidence of reflux or eosinophilic esophagitis. A subsequent esophageal manometry test was negative for motility disorder. A pH/impedance study demonstrated physiologic acid exposure and negative symptom-reflux association.

What is the diagnosis?

 

FINAL DIAGNOSIS: Functional Heartburn with a non-GERD driven cause of hoarseness

DISCUSSION: ROME IV defines functional heartburn as “as retrosternal burning discomfort or pain refractory to optimal antisecretory therapy in the absence of GERD, histopathologic mucosal abnormalities, major motor disorders, or structural explanations.”

Unfortunately, based on heartburn symptoms alone, many patients are presumed to have GERD or “PPIrefractory GERD” and thus stay on acid suppression therapy indefinitely without any benefit. Although heartburn can have a variable sensitivity and specificity (between 30-76% and 62-96% respectively), up to 70% of EGDs in patients with heartburn are negative. Laryngoscope findings are notoriously unreliable for diagnosing GERD, as signs of laryngeal irritation were seen in over 80% of healthy controls; furthermore, concordance among physicians can be low in evaluating these laryngeal findings. Finally, when present, laryngeal irritation may be due to non-GERD etiologies. A full work up includes EGD with biopsy, esophageal manometry, and pH/impedance testing off PPI. If these diagnostics tests are completed, the diagnosis is assured.

Patients with this disorder should be reassured to prevent further and repeated diagnostics. Therapy consists of neuromodulators (including tricyclic antidepressants and selective serotonin reuptake inhibitors), acupuncture, and hypnotherapy. Importantly, acid suppression therapy—particularly PPIs— should be discontinued. Because of their ubiquity and perceived benign nature, up to 42% of patients continue PPI despite negative tests for acid reflux. Patients should be referred to other relevant specialists for diagnosis and management of extra-esophageal symptoms like chronic cough, asthma, hoarseness, etc.

CITATIONS

• Kondo, et al. The Role of Esophageal Hypersensitivity in Functional Heartburn. The Journal of Clinical Gastroenterology. 2017
• Joel E. Richter and Michael F. Vaezi. Gastroesophageal Reflux Disease. Sleisenger and Fordtran’s Gastrointestinal and Liver Disease, 46, 670-690.e7
• Katz, Philip O MD; Gerson, Lauren B MD, MSc; Vela, Marcelo F MD, MSC. Guidelines for the Diagnosis and Management of Gastroesophageal Reflux Disease, American Journal of Gastroenterology: March 2013 – Volume 108 – Issue 3 – p 308-328 doi: 10.1038/ajg.2012.444
• Qasim Aziz, Ronnie Fass, C. Prakash Gyawali, Hiroto Miwa, John E. Pandolfino, Frank Zerbib. Esophageal Disorders. Gastroenterology: 2016. Volume 150, Issue 6, Pages 1368-1379
• L.R. Lundell, J. Dent, J.R. Bennett, et al. Endoscopic assessment of oesophagitis: clinical and functional correlates and further validation of the Los Angeles classification. Gut, 45 (1999), pp.
  172-180

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