Retrograde cricopharyngeal dysfunction

Last updated
A esophagus distended with trapped air in a subject with R-CPD. In normal persons, normal swallowed air travels back up to the esophagus. The neural pathway mediating belching directs opening of the upper esophageal sphincter in response to esophageal air filling; in R-CPD this mechanism fails and there is no upper esophageal sphincter opening. NB: This image was taken using a rigid scope without insufflated air. A wide esophagus due to trapped air. This is common in RCPD and causes chest pain, gurgles and other symptoms.jpg
A esophagus distended with trapped air in a subject with R-CPD. In normal persons, normal swallowed air travels back up to the esophagus. The neural pathway mediating belching directs opening of the upper esophageal sphincter in response to esophageal air filling; in R-CPD this mechanism fails and there is no upper esophageal sphincter opening. NB: This image was taken using a rigid scope without insufflated air.

Retrograde cricopharyngeus dysfunction (R-CPD; also known as the inability to belch syndrome) is a medical condition first identified by gastroenterologist, Dr Peter Kahrilas, in 1987. [1] However, the condition only began to become more well-recognized amongst patients and some medical specialists following a 2019 report by Dr Robert Bastian which described a very high rate of symptomatic relief from injection of botulinum toxin into the cricopharyngeus muscle. [2] Uniquely, awareness of the condition has spread predominantly through patients themselves rather than the medical community via numerous social media forums, the most prominent being the "No Burp" subreddit. [3] [4] Many patients report poor awareness of the condition amongst primary care physicians and specialists and needing to seek out specialists who can treat the condition through online research. [5] [6]

Contents

Symptoms

The condition is characterised by chronic gastrointestinal symptoms relating to excessive gas retention including abdominal bloating with distension, flatulence, audible gurgling sounds, and chest and abdominal discomfort. [2] Some with the condition are also unable to vomit, or can only do so with great difficulty. In most cases, inability to belch is a lifelong problem. [7] R-CPD has a significant detrimental impact on patients' quality of life. [6] [8]

Anatomy and Pathophysiology

The cricopharyngeus muscle is the major muscle comprising the upper esophageal sphincter. It is a strap-like, C-shaped muscle at the base of the throat, behind the larynx. The upper esophageal sphincter encircles the proximal (upper) opening of the oesophagus. [9] The upper esophageal sphincter has a residual tone which is in fact augmented as it is stretched open. [10]

Swallowing of air during eating and drinking is normal. However, as the air cannot be absorbed by the gastrointestinal tract, it is mostly vented via burping. A transient relaxation of the lower esophageal sphincter allows swallowed air in the stomach to rise into the esophagus where it triggers a reflex relaxation and opening of the UES. In R-CPD, all steps of this 'belch reflex' occur normally up until the last one; despite gaseous distension of the esophagus, the UES fails to open. It is believed that all the symptoms of R-CPD occur due to failed expulsion of swallowed air, and thereby buildup of gas throughout the entire gastrointestinal tract. [11]

Diagnosis

Many patients have R-CPD suffered from years of delayed diagnosis and misdiagnosis, and unsuccessful empiric treatment of gastrointestinal disorders including GERD, aerophagia, gallbladder dysfunction, and IBS. [6] Patients with R-CPD often undergo a battery of tests including nasendoscopy, gastrointestinal endoscopy, and barium swallow; which are almost always unrevealing.

In case where symptoms are classical, some specialists choose to treat the condition without formal diagnostic testing. However, physicians from the Netherlands and Australia have validated a specific diagnostic protocol using esophageal high-resolution manometry which is highly accurate in obtaining a conclusive diagnosis of R-CPD. [12] [7]

Treatments

The treatment of choice is injection of Botulinum toxin into the cricopharyngeus muscle. [2] The effect of Botulinum toxin is to temporarily weaken or paralyze the muscle. Reported success rates for inducing the ability to belch are extremely high, ranging from 88-92%. [13] The effect of botox is delayed for three days on average and most patients with successful results report the ability to burp by the fifth day after the procedure. For most, the effect will last beyond the first three to six months of direct Botox effect and is most frequently a lifelong cure. [13] A small percentage of patients will require a subsequent injection of Botox for lasting results. [14] An alternative if the injection is unsuccessful is to undergo partial cricopharyngeal myotomy. [15]

Method of Injection

Most commonly, injection is performed by direct (rigid) laryngoscope, under general anesthesia. An injection technique via flexible gastrointestinal endoscopy has also been described, which appears to have equivalent high success rates. [7] Injection can also be performed by a percutaneous (directly through the skin) approach, though success rates are lower. [16]

Side effects of Treatment

Being related to the temporary effect of the Botulinum toxin, side effects are also temporary and typically resolve without treatment. The most common side effect is difficulty swallowing which often requires temporary diet modification and altered eating style. Less common side effects include sore throat, difficulty breathing on exertion, voice change and reflux/regurgitation.

Related Research Articles

<span class="mw-page-title-main">Botulinum toxin</span> Neurotoxic protein produced by Clostridium botulinum

Botulinum toxin, or botulinum neurotoxin, is a neurotoxic protein produced by the bacterium Clostridium botulinum and related species. It prevents the release of the neurotransmitter acetylcholine from axon endings at the neuromuscular junction, thus causing flaccid paralysis. The toxin causes the disease botulism. The toxin is also used commercially for medical and cosmetic purposes. Botulinum toxin is an acetylcholine release inhibitor and a neuromuscular blocking agent.

<span class="mw-page-title-main">Peristalsis</span> Radially symmetrical contraction and relaxation of muscles

Peristalsis is a type of intestinal motility, characterized by radially symmetrical contraction and relaxation of muscles that propagate in a wave down a tube, in an anterograde direction. Peristalsis is progression of coordinated contraction of involuntary circular muscles, which is preceded by a simultaneous contraction of the longitudinal muscle and relaxation of the circular muscle in the lining of the gut.

<span class="mw-page-title-main">Esophagus</span> Vertebrate organ through which food passes to the stomach

The esophagus, oesophagus, or œsophagus all ; pl.: ( e)(œ)sophagi or (œ)sophaguses), colloquially known also as the food pipe, food tube, or gullet, is an organ in vertebrates through which food passes, aided by peristaltic contractions, from the pharynx to the stomach. The esophagus is a fibromuscular tube, about 25 cm (10 in) long in adults, that travels behind the trachea and heart, passes through the diaphragm, and empties into the uppermost region of the stomach. During swallowing, the epiglottis tilts backwards to prevent food from going down the larynx and lungs. The word oesophagus is from Ancient Greek οἰσοφάγος (oisophágos), from οἴσω (oísō), future form of φέρω + ἔφαγον.

<span class="mw-page-title-main">Esophageal achalasia</span> Inability of the sphincter between the esophagus and stomach to open

Esophageal achalasia, often referred to simply as achalasia, is a failure of smooth muscle fibers to relax, which can cause the lower esophageal sphincter to remain closed. Without a modifier, "achalasia" usually refers to achalasia of the esophagus. Achalasia can happen at various points along the gastrointestinal tract; achalasia of the rectum, for instance, may occur in Hirschsprung's disease. The lower esophageal sphincter is a muscle between the esophagus and stomach that opens when food comes in. It closes to avoid stomach acids from coming back up. A fully understood cause to the disease is unknown, as are factors that increase the risk of its appearance. Suggestions of a genetically transmittable form of achalasia exist, but this is neither fully understood, nor agreed upon.

An esophageal motility disorder (EMD) is any medical disorder resulting from dysfunction of the coordinated movement of esophagus, which causes dysphagia.

<span class="mw-page-title-main">Esophageal motility study</span> Medical test

An esophageal motility study (EMS) or esophageal manometry is a test to assess motor function of the upper esophageal sphincter (UES), esophageal body and lower esophageal sphincter (LES).

<span class="mw-page-title-main">Anal fissure</span> Break or tear in anal canal skin

An anal fissure is a break or tear in the skin of the anal canal. Anal fissures may be noticed by bright red anal bleeding on toilet paper and undergarments, or sometimes in the toilet. If acute they are painful after defecation, but with chronic fissures, pain intensity often reduces and becomes cyclical.

Burping is the release of gas from the upper digestive tract of animals through the mouth. It is always audible.

<span class="mw-page-title-main">Inferior pharyngeal constrictor muscle</span> Skeletal muscle of the pharynx

The inferior pharyngeal constrictor muscle is a skeletal muscle of the neck. It is the thickest of the three outer pharyngeal muscles. It arises from the sides of the cricoid cartilage and the thyroid cartilage. It is supplied by the vagus nerve. It is active during swallowing, and partially during breathing and speech. It may be affected by Zenker's diverticulum.

<span class="mw-page-title-main">Oropharyngeal dysphagia</span> Difficulty controlling the mouth or throat for swallowing

Oropharyngeal dysphagia is the inability to empty material from the oropharynx into the esophagus as a result of malfunction near the esophagus. Oropharyngeal dysphagia manifests differently depending on the underlying pathology and the nature of the symptoms. Patients with dysphagia can experience feelings of food sticking to their throats, coughing and choking, weight loss, recurring chest infections, or regurgitation. Depending on the underlying cause, age, and environment, dysphagia prevalence varies. In research including the general population, the estimated frequency of oropharyngeal dysphagia has ranged from 2 to 16 percent.

Esophageal spasm is a disorder of motility of the esophagus.

<span class="mw-page-title-main">Nutcracker esophagus</span> Excessively strong or long contractions of the esophagus

Nutcracker esophagus, jackhammer esophagus, or hypercontractile peristalsis, is a disorder of the movement of the esophagus characterized by contractions in the smooth muscle of the esophagus in a normal sequence but at an excessive amplitude or duration. Nutcracker esophagus is one of several motility disorders of the esophagus, including achalasia and diffuse esophageal spasm. It causes difficulty swallowing (dysphagia) with both solid and liquid foods, and can cause significant chest pain; it may also be asymptomatic. Nutcracker esophagus can affect people of any age but is more common in the sixth and seventh decades of life.

<span class="mw-page-title-main">Bladder sphincter dyssynergia</span> Medical condition

Bladder sphincter dyssynergia is a consequence of a neurological pathology such as spinal injury or multiple sclerosis which disrupts central nervous system regulation of the micturition (urination) reflex resulting in dyscoordination of the detrusor muscles of the bladder and the male or female external urethral sphincter muscles. In normal lower urinary tract function, these two separate muscle structures act in synergistic coordination. But in this neurogenic disorder, the urethral sphincter muscle, instead of relaxing completely during voiding, dyssynergically contracts causing the flow to be interrupted and the bladder pressure to rise.

Cricopharyngeal spasms occur in the cricopharyngeus muscle of the pharynx. Cricopharyngeal spasm is an uncomfortable but harmless and temporary disorder.

Cricopharyngeal myotomy is a surgical sectioning of the cricopharyngeus muscle, also known as the upper esophageal sphincter, that has been advocated for the treatment of cricopharyngeal spasm, or cricopharyngeal achalasia, that leads to cervical dysphagia in the clinical setting.

<span class="mw-page-title-main">Anismus</span> Failure to relax the pelvic floor muscles during defecation

Anismus or dyssynergic defecation is the failure of normal relaxation of pelvic floor muscles during attempted defecation. It can occur in both children and adults, and in both men and women. It can be caused by physical defects or it can occur for other reasons or unknown reasons. Anismus that has a behavioral cause could be viewed as having similarities with parcopresis, or psychogenic fecal retention.

The per-oral endoscopic myotomy, or POEM, is a minimally invasive surgical procedure for the treatment of achalasia wherein the inner circular muscle layer of the lower esophageal sphincter is divided through a submucosal tunnel. This enables food and liquids to pass into the stomach, a process that is impaired in achalasia. The tunnel is created, and the myotomy performed, using a flexible endoscope, meaning the entire procedure can be done without external incisions.

Prof Clare Fowler CBE is a British physician and academic who created the subspecialty of uro-neurology, a medical field that combines urology and neurology. This work was done at the Institute of Neurology, University College London, where she is an emeritus professor.

Esophagogastric junction outflow obstruction (EGJOO) is an esophageal motility disorder characterized by increased pressure where the esophagus connects to the stomach at the lower esophageal sphincter. EGJOO is diagnosed by esophageal manometry. However, EGJOO has a variety of etiologies; evaluating the cause of obstruction with additional testing, such as upper endoscopy, computed tomography, or endoscopic ultrasound may be necessary. When possible, treatment of EGJOO should be directed at the cause of obstruction. When no cause for obstruction is found, observation alone may be considered if symptoms are minimal. Functional EGJOO with significant or refractory symptoms may be treated with pneumatic dilation, per-oral endoscopic myotomy (POEM), or botulinum toxin injection.

<span class="mw-page-title-main">Jay Pasricha</span> Indian physician and researcher

Pankaj "Jay" Pasricha is a physician and researcher specializing in gastroenterology and neurogastroenterology. He currently serves as the chair of medicine at the Mayo Clinic in Scottsdale, Arizona. Formerly, he served as the director of the Johns Hopkins Center for Neurogastroenterology and was the founder and co-director of the Amos Food, Body and Mind Center, Vice Chair of Medicine for Innovation and Commercialization in the Johns Hopkins School of Medicine, and Professor of Innovation Management at the Carey Business School.

References

  1. Kahrilas, P.J.; Dodds, W.J.; Hogan, W.J. (October 1987). "Dysfunction of the belch reflex". Gastroenterology. 93 (4): 818–822. doi:10.1016/0016-5085(87)90445-8. PMID   3623025.
  2. 1 2 3 Bastian, R. W.; Smithson, M. L. (2019). "Inability to Belch and Associated Symptoms Due to Retrograde Cricopharyngeus Dysfunction: Diagnosis and Treatment". Oto Open. 3 (1): 2473974X19834553. doi:10.1177/2473974X19834553. PMC   6572913 . PMID   31236539.
  3. "Reddit - noburp". www.reddit.com. Retrieved 2025-01-13.
  4. "'Fifty years of people telling me I'm crazy': But not only does Amy's medical condition have a name, it can be treated". ABC News. 2023-02-27. Retrieved 2025-01-13.
  5. Sangastiano, Brittany; McCafferty, Elizabeth (2023-03-10). "Experience: I didn't burp for more than 20 years". The Guardian. ISSN   0261-3077 . Retrieved 2025-01-13.
  6. 1 2 3 Chen, Jason N.; Evans, Jacob; Fakhreddine, Aya Bou; Stroever, Stephanie; Islam, Ebtesam; Islam, Sameer (February 2024). "Retrograde cricopharyngeus dysfunction: How does the inability to burp affect daily life?". Neurogastroenterology and Motility. 36 (2): e14721. doi:10.1111/nmo.14721. ISSN   1365-2982. PMID   38115814.
  7. 1 2 3 Sanagapalli, Santosh; Eid, Mary; Kim, Matthew Bong-Sik; Tudehope, Fiona (2024-11-26). "Prospective Controlled Study of Endoscopic Botulinum Toxin Injection for Retrograde Cricopharyngeus Dysfunction: The Inability to Belch Syndrome". American Journal of Gastroenterology. doi:10.14309/ajg.0000000000003242. ISSN   0002-9270. PMID   39589004.
  8. "Non-burping can damage quality of life, researchers say". 2023-12-21. Retrieved 2025-01-13.
  9. Heyd, Cameron; Yellon, Robert (2025), "Anatomy, Head and Neck, Pharynx Muscles", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID   30969574 , retrieved 2025-01-13
  10. Lang, Ivan M; Shaker, Reza (November 1997). "Anatomy and Physiology of the Upper Esophageal Sphincter". The American Journal of Medicine. 103 (5): 50S –55S. doi:10.1016/s0002-9343(97)00323-9. ISSN   0002-9343. PMID   9422624.
  11. Kahrilas, Peter J. (2022-02-04). "Retrograde upper esophageal sphincter function… and dysfunction". Neurogastroenterology & Motility. 34 (5): e14328. doi:10.1111/nmo.14328. ISSN   1350-1925. PMC   9007908 . PMID   35122356.
  12. Oude Nijhuis, Renske A.B.; Snelleman, Jurjaan A.; Oors, Jac M.; Kessing, Boudewijn F.; Heuveling, Derrek A.; Schuitenmaker, Jeroen M.; ten Cate, Liesbeth; Smout, Andreas J.P.M.; Bredenoord, Albert J. (2021-08-26). "The inability to belch syndrome: A study using concurrent high-resolution manometry and impedance monitoring". Neurogastroenterology & Motility. 34 (5): e14250. doi:10.1111/nmo.14250. ISSN   1350-1925. PMC   9285907 . PMID   34435723.
  13. 1 2 Miller, Mattea E.; Lina, Ioan; Akst, Lee M. (2024-01-11). "Retrograde Cricopharyngeal Dysfunction: A Review". Journal of Clinical Medicine. 13 (2): 413. doi: 10.3390/jcm13020413 . ISSN   2077-0383. PMC   10817096 . PMID   38256547.
  14. "Retrograde Cricopharyngeus Dysfunction (R-CPD)". 26 September 2016.
  15. Bastian, R. W.; Hoesli, R. C. (2020). "Partial Cricopharyngeal Myotomy for Treatment of Retrograde Cricopharyngeal Dysfunction". Oto Open. 4 (2): 2473974X20917644. doi:10.1177/2473974X20917644. PMC   7163242 . PMID   32328538.
  16. Doruk, Can; Pitman, Michael J. (2023-07-08). "Lateral Transcervical In-office Botulinum Toxin Injection for Retrograde Cricopharyngeal Dysfunction". The Laryngoscope. 134 (1): 283–286. doi:10.1002/lary.30871. ISSN   0023-852X.