A Tough Nut to Crack

Abstract

Purpose: Clinical Presentation: A 16 year old male presented with a four year history of progressive dysphagia to solids and liquids. There was occasional associated regurgitation and intermittent, “tingling” chest pain. Esophageal impedance manometry testing was inconclusive showing diffuse esophageal spasm (DES) vs. achalasia. He had been treated with botox injections with only transient benefit. He was referred for a second opinion & repeat manometry testing showed a hypertensive lower esophageal sphincter (LES) with complete bolus transit & high amplitude peristaltic contractions in the distal esophagus. The manometric diagnosis of nutcracker esophagus was made. He was started on nifedipine with excellent results. About a year later, his symptoms returned. Empiric trials of nitroglycerin & tadalafil failed. At that time a barium esophagram was now consistent with achalasia and repeat manometry showed complete absence of peristalsis and a hypertensive, poorly relaxing LES. The diagnosis of achalasia was made. The patient underwent a Heller myotomy with complete resolution of his symptoms. He was able to stop all medications & remains symptom free. Results: Discussion: Nutcracker esophagus is characterized by normal peristalsis, complete bolus transit, and high amplitude contractions in the distal esophagus; with a distal esophageal amplitude (DEA) of greater than 220 mmHg. Additional characteristics frequently noted but not essential for diagnosis include a hypertensive LES & prolonged contractions with a duration greater than six seconds. Treatment options include smooth muscle relaxants, anti-depressants, and endoscopic interventions with botulinium injection or dilation. Previous studies have shown that up to 50% of patients with nutcracker esophagus may have a change in their manometric diagnosis over time. There have been two reports of patients with nutcracker esophagus transforming into variants of achalasia. Our patient had initial findings of nutcracker esophagus. Appropriate therapy for the condition was immediately effective, but subsequently lost efficacy. After further empiric therapy failed, his diagnosis was reassessed and achalasia was diagnosed. Appropriate achalasia therapy has had been effective long term. Conclusion: Conclusion: DES and nutcracker esophagus are diagnoses that are known to transform into other related diagnoses over time. Clinicians must be aware of the propensity for the disorders to evolve and must consider reassessing and revising their diagnosis if symptoms or response to therapy change. As with our patient, adjusting therapy to correspond with an evolving diagnosis can greatly improve symptoms and quality of life. Disclosure: Christopher Rife - no disclosures; Erick Singh - Consultant: Takeda Pharmaceuticals; Donald Castell - Consultant: Sandhill Scientific Inc, Takeda Pharmaceuticals, and Xenoport Inc; Speakers Bureau: Sandhill Scientific and Takeda Pharmaceuticals.