INTRODUCTION

Achalasia in the setting of esophageal varices prompts difficult decisions in management, given potential complications from liver disease and increased risk of variceal bleeding from stagnant food causing esophageal inflammation. Considering treatment options such as pneumatic dilation, botulinum toxin injection, peroral endoscopic myotomy, or heller myotomy presents a challenging dilemma.1 We describe a case of achalasia treated with endoscopic ultrasound (EUS)-guided botulinum toxin injection in a patient with esophageal varices.

CASE REPORT

A 69-year-old man with cirrhosis secondary to nonalcoholic steatohepatitis (NASH) complicated by esophageal varices, portal hypertensive gastropathy, and portal vein thrombosis presented with dysphagia and malnourishment. Despite the patient's model of end-stage liver disease (MELD) score of 11, he was referred for transplant evaluation, given decompensation from his ascites, recurrent esophageal variceal bleeding, and weight loss. The patient was diagnosed with moderate malnutrition, was unable to eat any meal without regurgitation (Eckardt score 9), and experienced a 14.2% weight loss over the previous 6 months with sarcopenia as evidenced by muscle atrophy at the temple, shoulders, and deltoids. Large middle and lower esophageal varices and a Schatzki ring were found during esophagogastroduodenoscopy (EGD) and dilated with a through-the-scope balloon to 18 mm, resulting in mild improvement (Figure 1). Esophageal manometry showed pan-pressurization and integrated relaxation pressure of 17.7 mm Hg consistent with type 2 achalasia (Figure 2). Given his varices and 30-day postoperative mortality risk of 34%, surgical management such as Heller myotomy was excluded. Coexisting achalasia with dysphagia made it more challenging to treat the esophageal varices in 3 separate EGDs.

Figure 1.:

Endoscopic view of middle third of the esophagus which showed large esophageal varices. A Schatzki ring was also found at gastroesophageal junction and dilated with a through-the-scope balloon to 18 mm that led to partial improvement.

After multidisciplinary discussion, it was decided to proceed with an EUS-guided botulinum toxin (Botox) injection for the treatment of achalasia (Figure 3). The muscularis propia of the lower esophageal sphincter (LES) was identified by EUS, which was used to guide an endoscopic needle into this layer for injection of 100 units of botulinum toxin while avoiding intervening vessels and varices. Varices were subsequently ligated. At follow-up, the patient's Eckardt score decreased to 1, and he was able to eat and drink normally.2 At 2-month follow-up with the nutrition team, he was able to consume 3 meals with protein supplements.

Figure 2.:

Esophageal manometry showed pan-pressurization consistent with type 2 achalasia. LES, lower esophageal sphincter; UES, upper esophageal sphincter.

Repeat EGD obtained 2 months after botulinum toxin injection revealed recurrence of large middle esophageal varices, which were not banded. On an 8-month follow-up EGD, the patient was found to have large middle and lower esophageal varices, which were banded. As the patient proceeds with transplant evaluation and experiences recurrent esophageal varices, EUS-guided botulinum toxin injection will be used to repeatedly temporize dysphagia secondary to achalasia. At the height of the patient's dysphagia, his body mass index had decreased to 18.1 kg/m2 with an albumin of 3.1 g/dL. After the patient's weight stabilized after intervention, his body mass index increased to 22.7 kg/m2, and his albumin increased to 3.7 g/dL. This method will optimize the patient's nutrition before transplant while minimizing risk of variceal bleeding.

Figure 3.:

EUS visualization of botulinum toxin injection into the MP of the LES, which was identified by EUS to guide an endoscopic needle into this layer for injection of 100 units of Botox while avoiding intervening vessels and varices. Arrow identifies needle tip. EUS, endoscopic ultrasound; LES, lower esophageal sphincter; MP, muscularis propria.

DISCUSSION

In patients with liver cirrhosis, achalasia worsens nutritional status, which could prevent candidacy for transplant. Malnutrition is a common complication of liver cirrhosis and is particularly evidenced by sarcopenia in patients with NASH cirrhosis, as demonstrated by the patient's muscle wasting observed in this case. Although the patient's MELD score of 11 suggested a 6.0% risk of mortality at 3 months, neither the MELD nor Child–Pugh scoring systems account for malnutrition and associated sarcopenia in their respective mortality predictions.3,4 Despite this, sarcopenia is present in 20%–70% of liver cirrhosis secondary to NASH and is associated with 2.3 times the mortality risk of a nonsarcopenic patient.5 Patients with concomitant sarcopenia and liver cirrhosis experience greater prevalence of hepatic decompensation, hepatocellular carcinoma, and infections, which could delay or prevent liver transplantation.6 In most cases, malnutrition in a patient with liver cirrhosis is either ascribed to the underlying disease process of cirrhosis, gastroesophageal reflux disease, and esophageal variceal ligation resulting in secondary dysmotility, scleroderma, or cyclosporine-based immunosuppression.7 However, additional motility disorders such as achalasia can complicate the clinical picture and exacerbate underlying malnutrition.

Achalasia is rare in the U.S. population, affecting only 20,000–40,000 individuals, but is an exceedingly rare presentation in a patient with liver cirrhosis and esophageal varices. Although achalasia has no known curable treatment, temporizing measures must be used to maintain nutrition and quality of life. According to the clinical guidelines of the American College of Gastroenterology and the American Society for Gastrointestinal Endoscopy, a patient with Grade II achalasia should be offered pneumatic dilation, heller myotomy, or peroral endoscopic myotomy.8,9 However, these and other invasive surgical options such as esophagectomy were unsafe in this patient, given the risk of variceal hemorrhage. Therefore, botulinum toxin injection became the guideline-directed first-line treatment.8,9

The primary mechanism of achalasia is inhibitory neuron loss in the myenteric plexus of the LES and esophageal wall.8Botox injections can temporarily counteract loss of inhibitory neuron function by inhibiting acetylcholine release in the excitatory neurons that stimulate the LES. This provides an important window to improve nutritional status and likelihood of transplant candidacy.

In this case of concomitant achalasia and esophageal varices, EUS guidance allowed visualization of the muscularis propia and identified an endoscopic needle trajectory that would not course through any potential vessels or varices. This approach is more likely to prevent complications of hemorrhage because patients with esophageal varices and achalasia are likely prone to bleeding at baseline.10 Given the extreme rarity of this presentation, the use of EUS for botulinum toxin injection in achalasia with esophageal varices has only been described 5 times to the best of our knowledge outside of this report.11–15 In a small international database case series of 14 patients with achalasia and esophageal varices, only 1 patient received botulinum toxin injection under EUS guidance between 2008 and 2016. This patient reportedly experienced improvement of dysphagia and was without complication, as described in our patient.15 Given our experience and evidence from the few previous cases, EUS-guided Botox injection to avoid varices followed by variceal ligation is potentially a safer method for delivering botulinum toxin to the LES.

DISCLOSURES

Author contributions: All authors participated to a significant extent in this study and the writing of the manuscript. M. Pang is the article guarantor.

Financial disclosure: None to report.

Previous presentation: This case was presented in poster format at the ACG Annual Scientific Meeting, October 21-26, 2022, in Charlotte, NC, and received the Presidential Poster Award.

Informed consent was obtained for this case report.

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