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Case Report

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J Korean Dysphagia Soc 2022; 12(2): 134-137

Published online July 30, 2022 https://doi.org/10.34160/jkds.2022.12.2.007

© The Korean Dysphagia Society.

Successful Management of Secondary Achalasia in a Patient with Myotonic Dystrophy

Ji Won Hong, M.D.1, Jin A Yoon, M.D., Ph.D.1,2, Ho Eun Park, M.D.1, Yong Beom Shin, M.D., Ph.D.1,2

1Department of Rehabilitation Medicine, Pusan National University Hospital, Busan, 2Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan, Korea

Correspondence to:Yong Beom Shin, Department of Rehabilitation Medicine, Pusan National University Hospital, Gudeok-ro 179, Seo-gu, Busan 49241, Korea
Tel: +82-51-240-7485, Fax: +82-51-247-7485, E-mail: yi0314@gmail.com

Received: October 25, 2021; Revised: October 28, 2021; Accepted: January 17, 2022

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Myotonic dystrophy (MD) is a systemic disease that affects any level of the gastrointestinal tract. Due to its rare occurrence, achalasia could be misdiagnosed due to symptoms being similar to gastroesophageal reflux (GERD). Moreover, there is no known appropriate treatment for achalasia in patients with MD. A 58-year-old man was diagnosed with type 1 MD. He complained of dyspepsia and chest pain, which showed no improvement even after administering GERD medication. Secondary achalasia was subsequently diagnosed after examining the lower esophageal sphincter by performing a video fluoroscopic-swallowing study (VFSS) and high-resolution manometry. Thereafter, the patient was successfully treated with balloon dilatation, and showed significant improvements in the symptoms. The patient remained well for 1 year. We report a rare case of secondary achalasia in an MD patient. Our study validates that VFSS might be useful for the early diagnosis of achalasia, and esophageal intervention (such as balloon dilatation) should be considered on confirmation of the affliction.

Keywords: Myotonic dystrophy, Achalasia, Dysphagia, Balloon dilatation, VFSS

Myotonic dystrophy (MD) is a systemic disease characterized by myotonia and progressive muscle weakness, which can cause dysfunction in several organs, including cardiac conduction abnormalities, cognitive impairment, cataracts, glucose intolerance and endocrine disorders. Gastrointestinal involvement is common and occurs in 25% of cases. It may occur at any level and cause aspiration pneumonia, poor quality of life, and malnutrition; therefore, administering appropriate treatment is imperative. Achalasia is rare, and patients with this condition exhibit symptoms such as dyspepia, heartburn, and abdominal pain, which are similar to those of gastroesophageal reflux (GERD); In addition, even if diagnosed, the appropriate treatment for achalasia in patients with myotonic dystrophy is unknown, thus proper treatment is not available. We report a case of type 1 MD who suffered persistent dyspepsia and chest pain. We diagnosed achalasia using a video fluoroscopic- swallowing study and high-resolution manometry, then successfully treated with balloon dilatation.

A 58-year-old man was diagnosed with type 1 MD in 2002. He presented with muscle weakness in the upper extremities that slowly progressed to the lower extremities, eventually becoming wheelchair-bound in his late 30 s. He also had respiratory difficulties, therefore, he made use of a non-invasive ventilator intermittently. His mother and aunt exhibited similar symptoms, and both died between the ages of 50 and 60. He recently complained of left chest pain, left upper quadrant (LUQ) pain, and poor oral intake for 7 months. His LUQ pain improved after he took medication prescribed for GERD. However, his left chest pain persisted with stuffiness, and was aggravated 1 hour after each meal. His meal intake eventually decreased by approximately half. Therefore, he was admitted to our hospital for evaluation on April 6, 2020. The results of his laboratory tests were normal, including those of echocardiography (ECG) and cardiac markers. Resistance was felt during lower esophageal sphincter (LES) entry while gastrointestinal endoscopy was being performed, but no structural abnormalities were found.

A video-fluoroscopic swallowing study (VFSS) was then performed, during which the liquid administered during the study flowed backwards after passing through the upper esophageal sphincter (UES) when 20 cc liquid was administered. Moderate retention of all forms of diet in the valleculae and pyriform sinus were also observed due to pharyngeal contraction impairment. We therefore moved the fluoroscope to the chest immediately and evaluated the esophagus and confirmed in real time that the LES did not open and reflux was present with achalasia like esophageal dilatation (“bird beak” appearance).(Fig. 1)

Figure 1. (A) Figure showing the “bird-beak” appearance observed during the video fluoroscopic swallowing study. (B) Food passing through the lower esophageal sphincter after balloon dilatation.

High-resolution manometry (HRM) revealed that the resting pressure of the UES was drastically reduced to 2.9 mmHg and gastrointestinal motility was decreased, indicating that the esophageal muscle was affected. Conversely, the intergrated relaxation pressure (IRP), which is the LES relaxation pressure, was 18.5 mmHg, which was higher than the achalasia diagnosis stander of 15 mmHg. It was classified as esophagogastric junction (EGJ) outflow obstruction according to Chicago classification ver.31.

Balloon dilatation of the LES was performed on April 20, 2020. Once the guidewire was inserted into the stomach using an endoscope, a 30 mm Rigiflex balloon was inserted and performed 30 seconds 4 psi twice to expand until the LES was incised. The patient was discharged with improved chest pain (from 10 to 2 points on the visual analog scale). After 1 year, outpatient follow-up manometry revealed that his esophageal motility was still impaired, however, the IRP had decreased to 13.2 mmHg.(Fig. 2) Follow-up VFSS revealed that pharyngeal retention persisted, but the passage of food through the LES was confirmed.(Fig. 1) He remained well maintained 1 year postoperatively.

Figure 2. (A) High-resolution manometry (HRM) showing that the pressure in the lower esophageal sphincter (LES) is increased (arrow: high mean LES pressure [41.7 mmHg]). No upper esophageal sphincter pressure (triangle) or normal peristalsis is observable. (B) HRM findings after balloon dilatation. The LES pressure is lower, (arrow: mean LES pressure [25.6 mmHg]) however, ineffective peristalsis remains.

The mechanism of esophageal involvement in MD pateints is complex. These patients may present with motility disorders, muscle weakness and myotonia. Most studies involving patients with MD have demonstrated a normal UES relaxation pressure and reduced UES resting pressure2, as well as a reduced esophageal peristalsis amplitude. The involvement of the LES is less clear, as some studies have indicate reduced LES resting pressure and an increased risk of developing GERD among these patients2,3, whereas secondary achalasia occurs due to a loss of relaxation of the LES and is rare2,4. Differentiating between these conditions based on symptoms alone is difficult because achalasia is often misdiagnosed as GERD. Since the treatments for these conditions are completely different, making an accurate diagnosis is important. We confirmed that food did not pass through the LES because relaxation did not occur in real time using VFSS, which is a common and non-invasive diagnostic method. Checking the LES to confirm achalsia in patients with MD during VFSS by moving the fluoroscope to the chest is recommended. Achalsia can be confirmed using HRM if it is suspected. One study reports that approximately 50% of patients with abnormalities observed using manometry were asymptomatic3, therefore we recommend checking the esophagus and LES of patients with MD during VFSS. This method may successfully evaluate the presence or absence of achalasia faster and more accurately.

Cricopharyngeal and esophageal achalasia have been reported in patients with MD, however, details regarding the specific treatment are lacking5,6. Minimally invasive techniques such as balloon dilatation or peroral endoscopic myotomy can be performed to treat cricopharyngeal achalasia; however, it remains unclear whether esophageal interventions focusing solely on the loss of LES relaxation will effectively treat patients with MD. We performed balloon dilatation to attempt to solve this clinical conundrum and observed a significant improvement in symptoms. This is significant because the present case report is the first to report effective intervention targeting the LES to our knowledge.

In conclusion, our experience with the present case suggests that VFSS might be useful when confirming achalasia, and esophageal intervention such as balloon dilatation should be considered if achalasia is confirmed.

This work was supported by clinical research grant from Pusan National University Hospital in 2021.

Ji Won Hong and Jin A Yoon carried out analysis of data and drafted the manuscript. Yong Beom Shin and Ho Eun Park revised the manuscript critically for important intellectual content and gave final approval of the version to be submitted.

  1. Carlson DA, Pandolfino JE. High-resolution manometry in clinical practice. Gastroenterol Hepatol (N Y) 2015;11:374-84.
    Pubmed KoreaMed
  2. Costantini M, Zaninotto G, Anselmino M, Marcon M, Iurilli V, Boccù C, et al. Esophageal motor function in patients with myotonic dystrophy. Dig Dis Sci 1996;41:2032-8. https://doi.org/10.1007/BF02093607.
    Pubmed CrossRef
  3. Modolell I, Mearin F, Baudet JS, Gámez J, Cervera C, Malagelada JR. Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy. Scand J Gastroen-terol 1999;34:878-82. https://doi.org/10.1080/003655299750025336.
    Pubmed CrossRef
  4. Bellini M, Biagi S, Stasi C, Costa F, Mumolo MG, Ricchiuti A, et al. Gastrointestinal manifestations in myotonic muscular dystrophy. World J Gastroenterol 2006;12:1821-8. https://doi.org/10.3748/wjg.v12.i12.1821.
    Pubmed KoreaMed CrossRef
  5. Sato H, Mizuno KI, Hashimoto S, Takatsuna M, Terai S. Achalasia in a patient with myotonic dystrophy. Intern Med 2020;59:67-8. https://doi.org/10.2169/internalmedicine.3360-19.
    Pubmed KoreaMed CrossRef
  6. Ghazaleh S, Nehme C, Khader Y, Hasan S, Nawras A. Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy: a case report. Gastroenterol Hepatol Bed Bench 2020;13:181-3.
    Pubmed KoreaMed

Article

Case Report

J Korean Dysphagia Soc 2022; 12(2): 134-137

Published online July 30, 2022 https://doi.org/10.34160/jkds.2022.12.2.007

Copyright © The Korean Dysphagia Society.

Successful Management of Secondary Achalasia in a Patient with Myotonic Dystrophy

Ji Won Hong, M.D.1, Jin A Yoon, M.D., Ph.D.1,2, Ho Eun Park, M.D.1, Yong Beom Shin, M.D., Ph.D.1,2

1Department of Rehabilitation Medicine, Pusan National University Hospital, Busan, 2Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan, Korea

Correspondence to:Yong Beom Shin, Department of Rehabilitation Medicine, Pusan National University Hospital, Gudeok-ro 179, Seo-gu, Busan 49241, Korea
Tel: +82-51-240-7485, Fax: +82-51-247-7485, E-mail: yi0314@gmail.com

Received: October 25, 2021; Revised: October 28, 2021; Accepted: January 17, 2022

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Myotonic dystrophy (MD) is a systemic disease that affects any level of the gastrointestinal tract. Due to its rare occurrence, achalasia could be misdiagnosed due to symptoms being similar to gastroesophageal reflux (GERD). Moreover, there is no known appropriate treatment for achalasia in patients with MD. A 58-year-old man was diagnosed with type 1 MD. He complained of dyspepsia and chest pain, which showed no improvement even after administering GERD medication. Secondary achalasia was subsequently diagnosed after examining the lower esophageal sphincter by performing a video fluoroscopic-swallowing study (VFSS) and high-resolution manometry. Thereafter, the patient was successfully treated with balloon dilatation, and showed significant improvements in the symptoms. The patient remained well for 1 year. We report a rare case of secondary achalasia in an MD patient. Our study validates that VFSS might be useful for the early diagnosis of achalasia, and esophageal intervention (such as balloon dilatation) should be considered on confirmation of the affliction.

Keywords: Myotonic dystrophy, Achalasia, Dysphagia, Balloon dilatation, VFSS

INTRODUCTION

Myotonic dystrophy (MD) is a systemic disease characterized by myotonia and progressive muscle weakness, which can cause dysfunction in several organs, including cardiac conduction abnormalities, cognitive impairment, cataracts, glucose intolerance and endocrine disorders. Gastrointestinal involvement is common and occurs in 25% of cases. It may occur at any level and cause aspiration pneumonia, poor quality of life, and malnutrition; therefore, administering appropriate treatment is imperative. Achalasia is rare, and patients with this condition exhibit symptoms such as dyspepia, heartburn, and abdominal pain, which are similar to those of gastroesophageal reflux (GERD); In addition, even if diagnosed, the appropriate treatment for achalasia in patients with myotonic dystrophy is unknown, thus proper treatment is not available. We report a case of type 1 MD who suffered persistent dyspepsia and chest pain. We diagnosed achalasia using a video fluoroscopic- swallowing study and high-resolution manometry, then successfully treated with balloon dilatation.

CASE REPORT

A 58-year-old man was diagnosed with type 1 MD in 2002. He presented with muscle weakness in the upper extremities that slowly progressed to the lower extremities, eventually becoming wheelchair-bound in his late 30 s. He also had respiratory difficulties, therefore, he made use of a non-invasive ventilator intermittently. His mother and aunt exhibited similar symptoms, and both died between the ages of 50 and 60. He recently complained of left chest pain, left upper quadrant (LUQ) pain, and poor oral intake for 7 months. His LUQ pain improved after he took medication prescribed for GERD. However, his left chest pain persisted with stuffiness, and was aggravated 1 hour after each meal. His meal intake eventually decreased by approximately half. Therefore, he was admitted to our hospital for evaluation on April 6, 2020. The results of his laboratory tests were normal, including those of echocardiography (ECG) and cardiac markers. Resistance was felt during lower esophageal sphincter (LES) entry while gastrointestinal endoscopy was being performed, but no structural abnormalities were found.

A video-fluoroscopic swallowing study (VFSS) was then performed, during which the liquid administered during the study flowed backwards after passing through the upper esophageal sphincter (UES) when 20 cc liquid was administered. Moderate retention of all forms of diet in the valleculae and pyriform sinus were also observed due to pharyngeal contraction impairment. We therefore moved the fluoroscope to the chest immediately and evaluated the esophagus and confirmed in real time that the LES did not open and reflux was present with achalasia like esophageal dilatation (“bird beak” appearance).(Fig. 1)

Figure 1. (A) Figure showing the “bird-beak” appearance observed during the video fluoroscopic swallowing study. (B) Food passing through the lower esophageal sphincter after balloon dilatation.

High-resolution manometry (HRM) revealed that the resting pressure of the UES was drastically reduced to 2.9 mmHg and gastrointestinal motility was decreased, indicating that the esophageal muscle was affected. Conversely, the intergrated relaxation pressure (IRP), which is the LES relaxation pressure, was 18.5 mmHg, which was higher than the achalasia diagnosis stander of 15 mmHg. It was classified as esophagogastric junction (EGJ) outflow obstruction according to Chicago classification ver.31.

Balloon dilatation of the LES was performed on April 20, 2020. Once the guidewire was inserted into the stomach using an endoscope, a 30 mm Rigiflex balloon was inserted and performed 30 seconds 4 psi twice to expand until the LES was incised. The patient was discharged with improved chest pain (from 10 to 2 points on the visual analog scale). After 1 year, outpatient follow-up manometry revealed that his esophageal motility was still impaired, however, the IRP had decreased to 13.2 mmHg.(Fig. 2) Follow-up VFSS revealed that pharyngeal retention persisted, but the passage of food through the LES was confirmed.(Fig. 1) He remained well maintained 1 year postoperatively.

Figure 2. (A) High-resolution manometry (HRM) showing that the pressure in the lower esophageal sphincter (LES) is increased (arrow: high mean LES pressure [41.7 mmHg]). No upper esophageal sphincter pressure (triangle) or normal peristalsis is observable. (B) HRM findings after balloon dilatation. The LES pressure is lower, (arrow: mean LES pressure [25.6 mmHg]) however, ineffective peristalsis remains.

DISCUSSION

The mechanism of esophageal involvement in MD pateints is complex. These patients may present with motility disorders, muscle weakness and myotonia. Most studies involving patients with MD have demonstrated a normal UES relaxation pressure and reduced UES resting pressure2, as well as a reduced esophageal peristalsis amplitude. The involvement of the LES is less clear, as some studies have indicate reduced LES resting pressure and an increased risk of developing GERD among these patients2,3, whereas secondary achalasia occurs due to a loss of relaxation of the LES and is rare2,4. Differentiating between these conditions based on symptoms alone is difficult because achalasia is often misdiagnosed as GERD. Since the treatments for these conditions are completely different, making an accurate diagnosis is important. We confirmed that food did not pass through the LES because relaxation did not occur in real time using VFSS, which is a common and non-invasive diagnostic method. Checking the LES to confirm achalsia in patients with MD during VFSS by moving the fluoroscope to the chest is recommended. Achalsia can be confirmed using HRM if it is suspected. One study reports that approximately 50% of patients with abnormalities observed using manometry were asymptomatic3, therefore we recommend checking the esophagus and LES of patients with MD during VFSS. This method may successfully evaluate the presence or absence of achalasia faster and more accurately.

Cricopharyngeal and esophageal achalasia have been reported in patients with MD, however, details regarding the specific treatment are lacking5,6. Minimally invasive techniques such as balloon dilatation or peroral endoscopic myotomy can be performed to treat cricopharyngeal achalasia; however, it remains unclear whether esophageal interventions focusing solely on the loss of LES relaxation will effectively treat patients with MD. We performed balloon dilatation to attempt to solve this clinical conundrum and observed a significant improvement in symptoms. This is significant because the present case report is the first to report effective intervention targeting the LES to our knowledge.

In conclusion, our experience with the present case suggests that VFSS might be useful when confirming achalasia, and esophageal intervention such as balloon dilatation should be considered if achalasia is confirmed.

ACKNOWLEDGEMENTS

This work was supported by clinical research grant from Pusan National University Hospital in 2021.

CONFLICT OF INTEREST

The authors declare no conflict of interest.

AUTHORS’ CONTRIBUTIONS

Ji Won Hong and Jin A Yoon carried out analysis of data and drafted the manuscript. Yong Beom Shin and Ho Eun Park revised the manuscript critically for important intellectual content and gave final approval of the version to be submitted.

Fig 1.

Figure 1.(A) Figure showing the “bird-beak” appearance observed during the video fluoroscopic swallowing study. (B) Food passing through the lower esophageal sphincter after balloon dilatation.
Journal of the Korean Dysphagia Society 2022; 12: 134-137https://doi.org/10.34160/jkds.2022.12.2.007

Fig 2.

Figure 2.(A) High-resolution manometry (HRM) showing that the pressure in the lower esophageal sphincter (LES) is increased (arrow: high mean LES pressure [41.7 mmHg]). No upper esophageal sphincter pressure (triangle) or normal peristalsis is observable. (B) HRM findings after balloon dilatation. The LES pressure is lower, (arrow: mean LES pressure [25.6 mmHg]) however, ineffective peristalsis remains.
Journal of the Korean Dysphagia Society 2022; 12: 134-137https://doi.org/10.34160/jkds.2022.12.2.007

References

  1. Carlson DA, Pandolfino JE. High-resolution manometry in clinical practice. Gastroenterol Hepatol (N Y) 2015;11:374-84.
    Pubmed KoreaMed
  2. Costantini M, Zaninotto G, Anselmino M, Marcon M, Iurilli V, Boccù C, et al. Esophageal motor function in patients with myotonic dystrophy. Dig Dis Sci 1996;41:2032-8. https://doi.org/10.1007/BF02093607.
    Pubmed CrossRef
  3. Modolell I, Mearin F, Baudet JS, Gámez J, Cervera C, Malagelada JR. Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy. Scand J Gastroen-terol 1999;34:878-82. https://doi.org/10.1080/003655299750025336.
    Pubmed CrossRef
  4. Bellini M, Biagi S, Stasi C, Costa F, Mumolo MG, Ricchiuti A, et al. Gastrointestinal manifestations in myotonic muscular dystrophy. World J Gastroenterol 2006;12:1821-8. https://doi.org/10.3748/wjg.v12.i12.1821.
    Pubmed KoreaMed CrossRef
  5. Sato H, Mizuno KI, Hashimoto S, Takatsuna M, Terai S. Achalasia in a patient with myotonic dystrophy. Intern Med 2020;59:67-8. https://doi.org/10.2169/internalmedicine.3360-19.
    Pubmed KoreaMed CrossRef
  6. Ghazaleh S, Nehme C, Khader Y, Hasan S, Nawras A. Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy: a case report. Gastroenterol Hepatol Bed Bench 2020;13:181-3.
    Pubmed KoreaMed

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