Retrograde Cricopharyngeus Dysfunction (RCPD) is a relatively newly termed condition that describes the inability of the cricopharyngeus muscle of the upper esophageal sphincter (UES) to relax to allow for burping. Commonly associated symptoms include abdominal bloating, discomfort, excessive flatulence, and socially awkward gurgling noises.^{1, 2} In addition to the physical discomfort, these symptoms can significantly affect an individual's quality of life, causing physical discomfort, social embarrassment, and psychological distress.¹ Interviews of those affected have further shown the significant impediment to quality of life, especially due to lack of clinician awareness.³ Therefore, it is important to continue increasing awareness of this novel condition for identification, prevention, and management.

While the clinical manifestations of RCPD have been explored, its etiology and associated risk factors remain poorly understood. Previous studies have shown that the vast majority of patients with the condition developed symptoms during early childhood or lifelong.^{1, 4} Although some have family prevalence of the condition,^{1, 4, 5} it is uncertain if this is an acquired or inherited condition. It has been noted by Hoesli et al. that some had been colic, gassy, or difficult to burp as an infant.⁴ Anecdotally, it has been proposed that some individuals had emetophobia in childhood. It is useful to understand shared early childhood exposures or experiences that may have impacted the arise of this condition to aid in identification or prevention at an early age.

Risk factors for esophageal and gastrointestinal dysfunctions in general have been linked to a variety of demographic, behavioral, and medical factors. For example, conditions like gastroesophageal reflux disease (GERD), esophageal spasms, eosinophilic esophagitis, and achalasia have been associated with smoking, dietary habits, psychological stress, and comorbidities such as allergies and respiratory conditions.^6–10 Neonatal experiences, including feeding difficulties, colic, and premature birth, have also been implicated in early development of esophageal motor dysfunctions.^11–14 However, the relevance of these factors to RCPD remains unclear.

This study aims to explore common early life experiences of those who suffer from RCPD through a comprehensive survey. Currently, online patient communities focused on RCPD are the source of many previous studies given the novelty of the condition.^{2, 3, 15–17} Information about prevalent childhood characteristics of those who suffer from RCPD have direct clinical implications of improving identification, prevention, and management of the condition. Furthermore, as awareness within the gastroenterology community increases and larger patient cohorts are identified, clinical trials testing multimodal approaches may be explored for targeting the different risk factors or other associations of the condition.

This is a cross-sectional exploratory study that utilized a Qualtrics survey that was distributed from December 2024 to February 2025 through an online community focused on RCPD, providing unique access to a concentrated population that is otherwise difficult to identify and recruit through traditional clinical settings. Adults aged 18–89 years who reported current or prior symptoms consistent with R-CPD were invited to participate. Respondents outside the 18–89 age range or those who did not endorse at least one cardinal symptom were excluded from analysis. The survey captured a wide range of variables, including demographics, symptoms experienced, symptom severity and frequency, family history, neonatal and childhood experiences, psychological factors, and physician visits. The complete survey can be found in supplemental file 1. Early life and developmental factors examined in this study were selected based on established risk factors and comorbidities associated with other esophageal motility and reflux-related disorders.^18–22 This study was determined to be exempt from full review through the University of Texas Health San Antonio Institutional Review Board office prior to starting. This study followed the STROBE reporting guideline for cross-sectional observational studies.

Descriptive analysis, including percentages for categorical variables and means for continuous variables, was conducted through Qualtrics. Proportions for categorical data were calculated out of total respondents for each question. Analyses were performed to evaluate the association of early life experiences for RCPD which was modeled as a categorical variable (1 = any, 0 = none) as well as family history of RCPD (yes/no) with symptom severity, symptom frequency, gender, and age of onset. Because symptom severity was measured on a scale ranging from 1 to 10, and was not normally distributed, the Wilcoxon rank sum test was used while chi-square test and Fisher's exact test employed for categorical outcomes of symptom frequency, gender, and age of onset. Statistical significance was determined with p values less than 0.05. Analyses were performed using available data for each question; missing responses were excluded on a per-item basis. All analyses were exploratory, and no correction for multiple testing was applied. All statistical analysis were performed using the SAS software version 9.4 (SAS Institute, Inc., Cary, NC).

Participant Characteristics

Of 225 total respondents, 211 met inclusion criteria for data analysis. Demographic data can be found in Table 1. The average age was 32 years (standard deviation: 9.6). Approximately 27% of respondents were male while 69% were female. Also, 94% were White, 2% were Asian, 0% were Black, and 5% were another race besides those listed. Regarding ethnicity, 7% reported being Hispanic. 61% of respondents were located in the United States and 39% from abroad.

Symptom Profile

All respondents were unable to belch, 98% had abdominal bloating and discomfort, 98% had socially awkward gurgling noises, 90% had excessive flatulence, 80% had painful hiccupping, and 66% had difficulty vomiting (Table 2). 40% noticed symptoms prior to 25 years old and 57% have had them for as long as they could remember (Table 2). Prior to treatment, the majority (86%) of respondents had daily symptoms with the mean severity being 7 (standard deviation 1.8) out of 10 (Table 2).

Early Life Experiences

Early life experiences can be found in Fig. 1. The most prevalent experiences were emetophobia and anxiety, with approximately 39% and 38% of respondents reporting each respectively. This was followed by difficulty with being burped as a baby at 20%. Other significant factors included 10% responding having had a major traumatic event, 10% having had seasonal allergies, and 12% having been a colic baby. 28% of respondents exhibited none of the options. There were no significant differences in symptom severity (p = 0.93), symptom frequency (p = 0.80), gender (p = 0.45), or age of onset (p = 0.87) between those who selected any of the early life experiences and none of them.

Family History

29% reported a family member having the same condition, with the most common being a sibling (10%). First degree relative history accounted for 25% of all respondents and 83% of those who answered having a family member with the condition (Table 2). There were no significant differences in symptom severity (p = 0.08), symptom frequency (p = 0.58), age of onset (p = 0.22), or gender (p = 0.9) between those who had any family history and those who did not.

Comorbidities and Prior Testing

Approximately 26% of respondents had concurrent gastroesophageal reflux disease (GERD), 4% had esophageal spasms, 2% had eosinophilic esophagitis, 0% had achalasia, and 73% have none of these (Table 2). Of 94 of those who were told to take an acid suppressing medication, 85% did not have any improvement in symptoms. Additionally, 37% have had an esophagogastroduodenoscopy (EGD) and 18% had a barium swallow. The most selected treatment option was changing body position, such as laying down.

Physician Encounters and Clinical Recognition

About 61% of respondents reported discussing their condition with any physician (Table 2). Of these, 36% felt their physician understood how to help them feel better. Also, 36% have seen a gastroenterologist for their symptoms. Of these, 18% felt that their gastroenterologist understood how to help improve symptoms. Overall, 32% were misdiagnosed as GERD by a physician while 39% have been formally diagnosed with RCPD by a physician.

This study introduces new evidence on early life and familial patterns in RCPD, offering insights for gastroenterologists confronting this emerging disorder. Like previous studies, the most common symptoms included the inability to belch, abdominal bloating, socially awkward gurgling noises, and excessive flatulence. However, a less described symptom, painful hiccupping, was described by 80% of participants. This can be seen in other gastric and esophageal conditions causing irritation along the hiccup reflex arc, which includes the phrenic and vagus nerves.²³ It is possible that gaseous distention of the esophagus or stomach in RCPD causes a similar pathology.

Also, like previous studies, symptoms developed early in life, with 97% of participants having developed symptoms by 25 years old. Previously reported presence of family history of RCPD is varied, from 17 to 42%.^{5, 24} In this study, 29% had a family member who had symptoms of RCPD. Of those, 83% were first degree relatives. Additionally, the presence of family history did not impact symptom severity, frequency, or age of onset. There was also no significant variation of family history prevalence between males and females. The combination of early onset and prevalence of reported family history of disease continues to suggest the possibility of an inherited role in the development of RCPD; however, genetic testing still needs to be conducted to confirm this role.

Meanwhile, 72% of respondents related to at least one of the early life experiences offered in the survey. The most common were psychological, led by fear of vomiting/avoiding vomiting and anxiety, with 39% and 38% of respondents respectively. This is higher than previous studies that have reported current mental health disorders in 5.7% and 31.8% of RCPD patients.^{5, 16} The prevalence of anxiety in this study is comparable to a meta-analysis of anxiety prevalence in GERD patients, 34.4%.²⁵ There is strong evidence of anxiety and other psychiatric conditions associated with esophageal motor dysfunction and gastrointestinal disease severity such as in GERD, esophageal spasms, and achalasia.^25–30 It has been suggested that anxiety may contribute to symptoms due to the hypervigilance of esophageal sensation and perception, but also may contribute to physiological changes such as elevated UES basal pressure.^{31, 32} The cricopharyngeus muscle of the UES contracts and relaxes to contribute to UES tone through various reflexes and neural circuits.³³ Anxiety and stress can increase the contraction of this muscle through excitatory input to the UES motor neurons.³⁴ Additionally, stress in children especially influences esophageal physiology development through altering esophageal mucosal permeability and developing neuromodulatory pathways.³⁵ Emetophobia, associated with anxiety disorders, may further affect UES motor function by causing limbic hyperactivity and increasing central drive to the brainstem nuclei through vagal and glossopharyngeal pathways, causing hypervigilance and increased UES basal pressure.^{36, 37} Therefore, the prevalence of anxiety and fear especially in early life may be significant in contributing to the development of RCPD by maladaptive learning through altering the physiology and neural circuits of the UES to be in a more excitatory state at baseline. This relationship further adds to the collection of evidence that demonstrates the complexity of the brain-gut axis. Currently, there is limited literature describing the association with psychological stress with RCPD.

Another disorder that is also associated with psychological stress and maladaptive behavior involving the brain-gut axis is dyssynergic defecation following sexual trauma.³⁸ This is defined by paradoxical contraction or failure of relaxation of the external anal sphincter from neuromuscular dysfunction, many times following sexual trauma.^{38, 39} 10% of respondents of our study reported having had a major emotional traumatic event and 3% had neck trauma or surgery in childhood. The possible mechanism of how sexual trauma may contribute to involuntary contraction of the external anal sphincter may be analogous to how psychological stress like emetophobia or trauma may be associated with UES contraction, both involving maladaptive motor patterns in the brain-gut/esophagus feedback loops. The benefit of behavioral retraining in RCPD⁴⁰ further supports this maladaptive model, demonstrating that learned motor patterns can be modified to improve symptoms. However, further concentrated studies will need to be performed to clarify the association of trauma with RCPD. Additionally, 28% of respondents felt that none of the listed experiences applied to them, leaving the possibility of disease development without association with any of the studied experiences.

It is unclear if RCPD is an isolated condition or associated with other esophageal pathologies. 27% reported having either GERD, esophageal spasms, or eosinophilic esophagitis in addition to their RCPD symptoms. The most common of these, GERD existed in 26% of respondents. No one reported having achalasia. Current existing literature, although limited, reveal limited comorbidities in RCPD, but GERD was found in 6.6%-50% of patients.^{1, 5, 16, 41} GERD is known to affect the motility of the esophagus.⁴² There is no causal relationship between GERD and RCPD, but it has been hypothesized that chronic reflux exposure to the UES in GERD may cause compensatory hypertrophy of the cricopharyngeus muscle, predisposing to RCPD.⁴³ However, the possible relationship between RCPD and the examined esophageal disorders is also complicated by their shared confounding associations with stress and anxiety.

This study further reinforces the limited awareness of RCPD among providers. Of the 61% of respondents who have sought help from a physician, only 36% felt their physician understood the disease to adequately manage it. Furthermore, only 36% of respondents have seen a gastroenterologist, of whom only 18% thought it was helpful. 32% reported being misdiagnosed as GERD. Many were inadequately treated with proton pump inhibitors and had testing with EGDs, barium swallow studies, computed tomography scans, or gastric emptying studies, in which efficacy for diagnosing RCPD is unclear,^{16, 44} further showcasing the limited knowledge among providers for diagnosis and treatment of RCPD. It is also important to note that the majority of this population have not been seen by gastroenterologists, who are able to perform high-resolution manometry (HRM), one of the diagnostic tests for RCPD.^{44, 45}

Diagnosis and management of RCPD requires collaboration from both the patient and the provider. From the patient’s perspective, they must be informed and empowered to seek help from a provider about their condition. The role of social media in health care, especially RCPD awareness, cannot be understated. Previous studies have demonstrated that the majority of patients learn of RCPD first through social media or online forums.^{2, 3, 15–17} Beyond awareness, this study demonstrates how online patient communities can serve as valuable platforms for recruiting individuals with rare, under-recognized disorders. From the provider perspective, there is a need to increase recognition of the condition to guide patients to the correct specialist for diagnosis and treatment, such as gastroenterologists for HRM testing, otolaryngologists for botulinum toxin injections, or speech language pathologists for behavioral retraining through the Behavioral Eructation Retraining Protocol (BERP).⁴⁰ Furthermore, recognizing the early life experiences and possible risk factors for this condition may help aid and quicken diagnosis of the condition in those suffering from it. Further implications of future research on risk factors for RCPD may help identify children at higher risk and inform strategies to prevent its development.

Taken together, these findings carry important clinical implications. Greater recognition of RCPD among gastroenterologists may reduce unnecessary diagnostic testing and misdirected therapies, shorten diagnostic delays, and guide patients more efficiently to appropriate evaluation such as HRM. Additionally, the overlap of common early life experiences such as psychological distress and other associated features highlights the potential value of multimodal management strategies in treatment of this condition, which can be further investigated as awareness and systematic identification increase, ultimately enabling future clinical trials.

Limitations

This study is limited by its reliance on self-reported survey data, which may introduce recall bias. While the analysis was restricted to individuals endorsing at least one cardinal symptom of RCPD, many were not officially diagnosed by a clinician, and therefore, the findings are reliant on participant honesty and accuracy. However, given the novelty of this condition and limited consolidated RCPD patient data elsewhere, this study takes advantage of the important education, advocacy, and support role that social media has in health care. Recruitment through an online discussion forum (Reddit) provided unique access to a large, concentrated group of affected patients, as utilized previously on smaller scales.^{1–3, 15–17} It also captures perspectives of those who may have not had the opportunity to present to specialty care, a population that is often underrepresented in clinic-based cohorts, especially in novel conditions. Online communities enable rapid recruitment, patient-centered data collection, and unique insights into how individuals experience and discuss their symptoms outside of traditional healthcare environments.

This study expands the understanding of RCPD by highlighting the frequent presence of early life psychological factors, family history, and associated esophageal comorbidities in affected individuals. The findings suggest that anxiety, emetophobia, and early stress exposures may play a role in the development of RCPD, possibly through brain–gut mechanisms influencing upper esophageal sphincter physiology. At the same time, a substantial proportion of patients reported no identifiable early life risk factors, underscoring the heterogeneity of this condition. Limited physician recognition and frequent misdiagnosis continue to delay appropriate management, reinforcing the need for greater clinical awareness and education. Future research should focus on genetic contributions, neurophysiologic mechanisms, and longitudinal studies of at-risk populations to clarify etiology and guide earlier diagnosis, prevention, and targeted therapy. As clinical awareness grows and larger populations are identified, randomized trials will become feasible to evaluate integrated treatment strategies that target the overlapping features of RCPD.