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Rumination Disorder
Introduction
Rumination syndrome is a functional gastrointestinal disorder defined as the effortless regurgitation of recently ingested food from the stomach back into the oral cavity in the absence of organic disease. The regurgitation usually occurs within the first 15 minutes after the completion of a meal. A simultaneous remastication and expectoration or re-swallowing of indigested food is commonly observed and can continue for up to two hours after each meal.
Rumination syndrome can be present in both children and adults and is classified as a functional gastrointestinal disorder by the Rome IV criteria and as an eating disorder according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V).[1] Rumination disorder is often misdiagnosed as gastroesophageal reflux disease or vomiting, which results in unnecessary testing and treatments, leading to delay in therapies that will help alleviate the problem.[2]
Etiology
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Etiology
The etiology of rumination syndrome is likely multifactorial; however, the exact causes are poorly understood. Several risk factors have been associated with the condition, which includes the following:[3][4]
- Emotional neglect (in infants)
- Emotional stress[5]
- Presence of mental health diagnoses such as obsessive-compulsive disorder, anxiety, depression, adjustment disorder, post-traumatic stress disorder, and attention deficit-hyperactivity disorder (ADHD)[6][7][8]
- Developmental delay
- Fibromyalgia[9]
- Rectal evacuation disorder[10]
Epidemiology
The exact prevalence and incidence of rumination syndrome are uncertain as different diagnostic criteria are used to diagnose depending on the clinical setting. It is likely severely underdiagnosed as well.[11] Patients take years to be accurately diagnosed and tend to see numerous physicians leading to sparse inaccurate data.[12] Furthermore, patients commonly report vomiting, abdominal pain, and symptoms compatible with avoidant/restrictive food intake disorders, making the diagnosis of rumination syndrome particularly difficult.[13][14][15]
Rumination syndrome exists in all age groups, and there are conflicting data concerning the prevalence and incidence. Lewis et al.[16] used online questionnaires to assess for symptoms suggestive of rumination syndrome, with 949 responses collected, of which none reported rumination. In contrast, Rajindrajith et al. indicated in a Sri-Lankan population-based study with more than 2000 children aged 10 to 16 years, a prevalence of 5.1% evenly distributed between boys and girls.[17][18]
Rumination syndrome appears to be less common in the general adult population, approaching approximately 1%.[19][9] Rumination syndrome is suspected of playing a more significant role in treatment-refractory gastrointestinal reflux disease, nausea, and vomiting.[20] Approximately 20% of adults not responding to proton pump inhibitors displayed a rumination profile on postprandial high-resolution impedance manometry.[21]
Pathophysiology
Rumination syndrome is believed to be an unintentionally acquired habit, possibly a learned adaptation of the belch reflex.[22] The pathophysiology of rumination syndrome is not entirely understood and includes multiple overlapping mechanisms.
The primary mechanism and key event include an often unperceived increase in the stimulation of all abdominothoracic muscles during eating, resulting in an increase in the intra-abdominal pressure. A concomitant expansion of the chest results in negative intrathoracic pressure.[8] These changes and a proposed relaxation of the diaphragm, gastric fundus, and lower and upper esophageal sphincters, lead to increased intragastric pressure, facilitating the retrograde flow of food into the oral cavity.[23][24]
The simultaneous activation of all abdominothoracic muscles in patients with rumination syndrome can be appreciated as a characteristic "R" or retrograde wave on electromyography. Other contributory mechanisms include gastroesophageal reflux disease (GERD) and belching. Pressures involved in the pathophysiology of GERD are unlikely to cause a spike in pressures as high as those seen in primary rumination, but in the younger population, it might be involved in triggering episodes of rumination considered as "secondary rumination."[25][26] Belching is considered another trigger factor for rumination and is termed "supra-gastric rumination."[27]
The maintenance of rumination is often associated with psychosocial diseases. Several smaller studies suggest that many patients with rumination syndrome have a higher burden of underlying somatic disorders, depression, or anxiety.[28][12] Rumination might be maintained as it provides (pain) relief or aid in weight control.[29] A pathophysiologically distinct subtype of rumination syndrome is infantile rumination, which is related to emotional neglect.[27][30]
Histopathology
Little is known about the significance of histopathological changes in patients with rumination syndrome. Halland et al.[31] obtained 22 duodenal biopsies from patients with rumination syndrome and compared the number of eosinophils and intraepithelial lymphocytes to controls. Histological analysis indicated that patients with rumination syndrome have mild eosinophilia and a higher number of intraepithelial lymphocytes compared to controls. These findings were confirmed by Friesen et al. in young patients; additionally, an increased number of gastric antral eosinophils and mast cells were found.[32] These underlying histological changes suggest a possible inflammatory component in patients with rumination syndrome. However, the exact mechanism and molecular pathways involved remain unknown.
History and Physical
Patients with rumination syndrome commonly report dyspepsia, vomiting, and abdominal pain. The syndrome is characterized by rapid (usually within 10 minutes) regurgitation after a meal. The regurgitation can persist for 1 to 2 hours after finishing a meal. The most common reasons for referrals to gastroenterologists include perceived gastroparesis, vomiting of unknown origin, and refractory gastroesophageal reflux disease.[33] Symptoms are usually chronic, and a diagnosis of rumination syndrome may take on average 21 to 77 months.[34]
Obtaining detailed history is important as many patients are not able to differentiate between vomiting and regurgitation. Vomiting is a forceful action in which the individual cannot keep the vomitus within the oral cavity. Regurgitation is usually effortless without gagging, or retching and the individual can keep the regurgitant within the oral cavity. If expectoration occurs, it is voluntary. Nausea is usually absent, and the regurgitant is usually undigested, recognizable, and frequently pleasant in taste. Some patients can predict the onset of regurgitation as they have an impending abdominal pain known as the premonitory urge, which can be severe enough to result in physical distress. Frequent regurgitations can also result in significant weight loss and dehydration.[33]
Past medical history commonly includes depression, anxiety, and somatic disorders. Gastroesophageal reflux does not exclude the diagnosis of rumination syndrome. Eating and feeding disorders should be taken into consideration and ruled out accordingly. Severe weight loss, electrolyte abnormalities, dental erosions, and malnutrition are uncommon in primary rumination syndrome unless underlying eating disorders are present. Although the frequency of these findings is still higher in patients with rumination syndrome when compared to healthy age-matched controls.[35]
Evaluation
According to the ROME IV criteria for rumination syndrome, a diagnosis is possible on clinical grounds without invasive testing. In contrast, the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) criteria require that repeated regurgitation should not be due to a medical condition which most often requires some form of testing for exclusion. Moreover, as many patients commonly wait years to be accurately diagnosed, some patients are disappointed about a diagnosis of a functional gastrointestinal disorder, and objective tests are helpful for patients to comprehend the diagnosis of rumination syndrome better.[36][4] The extent of evaluation should be individualized to the patient's need and based on the clinical history and underlying comorbid conditions. The recommended evaluation of patients with suspected rumination syndrome includes:
- Assessment of potential underlying eating disorders (bulimia nervosa, anorexia nervosa)
- Endoscopy and/or CT enterography to exclude mechanical obstruction
- High-resolution esophageal manometry (HRIM) with impedance testing
- Electromyography (EMG) of the abdominothoracic muscles
- This study will show a characteristic spiking of activity during episodes of rumination.[39]
- Historically, this study was often employed in the diagnosis of this condition.
- Gastric emptying studies and pH studies are not necessary for diagnosis but recommended if clinical symptoms are atypical and other underlying conditions such as refractory gastroesophageal reflux disease (GERD) or gastroparesis have to be excluded.
Diagnostic and Statistical Manual of Mental Disorders (DSM-V) Criteria for Rumination Syndrome
- Repeated regurgitation of food for a period of at least one month is a sign. Regurgitated food may be re-chewed, re-swallowed, or spat out.
- The repeated regurgitation is not due to an underlying general medical condition (e.g., GERD, pyloric stenosis, etc.).
- The behavior does not occur exclusively in the course of anorexia nervosa, bulimia nervosa, binge-eating disorder (BED), or avoidant/restrictive food intake disorder.
- If occurring in the presence of another mental disorder (e.g., intellectual developmental disorder) or general medical condition (including pregnancy), it is severe enough to warrant additional clinical attention
ROME IV Criteria for Rumination Syndrome in Adults
Must include all of the following:
- Persistent or recurrent regurgitation of recently ingested food into the mouth with subsequent spitting or remastication and swallowing
- Regurgitation is not preceded by retching
Criteria fulfilled for the last three months with symptom onset at least six months before diagnosis.
Supportive aspects:
- Effortless regurgitation events are usually not preceded by nausea
- Regurgitant contains recognizable food that might have a pleasant taste
- The process tends to cease when the regurgitated material becomes acidic
ROME IV Criteria in Pediatrics[40]
Neonate/Toddler
Must include all of the following for at least two months:
- Repetitive contractions of the abdominal muscles, diaphragm, and tongue
- Effortless regurgitation of gastric contents, which are either expelled from the mouth or re-chewed and re-swallowed
Three or more of the following:
- Onset between 3 and 8 months
- Does not respond to management for gastroesophageal reflux disease and regurgitation
- Unaccompanied by signs of distress
- It does not occur during sleep and when the infant is interacting with individuals in the environment.
Children/Adolescent
Must include all of the following for at least two months:
- Repeated regurgitation and re-chewing or expulsion of food that begins soon after ingestion of a meal
- It does not occur during sleep
- Not preceded by retching
After appropriate evaluation, if the symptoms cannot be fully explained by another medical condition, an eating disorder must be ruled out.
High-resolution Impedance-pH Manometry
The diagnosis of rumination syndrome can be confirmed using this study if there is evidence of reflux extending to the proximal esophagus that is closely associated with an intragastric pressure of greater than 30 mmHg in adults or 25 mmHg in children.[37] The study is also helpful in identifying rumination variants. Primary rumination is identified as abdominal pressure increase preceded by the retrograde flow, and secondary rumination is identified as an increase in abdominal pressure after the onset of a reflux event.
Treatment / Management
The initial management of patients with rumination syndrome consists of education regarding the disease process, reassurance, and behavioral modifications to reduce the episodes of regurgitation.
Diaphragmatic Breathing[41](B3)
Diaphragmatic breathing is the first-line treatment for rumination syndrome. It works by initiating a competing mechanism to the acquired, unperceived contractions of the abdominothoracic muscles. The patient is instructed to sit in a chair and place one hand on the chest and the other on the abdomen. During breathing, only the hand on the abdomen is allowed to move with slow and deep 6 to 8 respirations per minute. The patients inhale, contracting the diaphragm and expanding the abdomen.
Diaphragmatic breathing should be initiated after completion of a meal or with signs of incoming regurgitations. Effects of diaphragmatic breathing can be visualized via EMG and/or HRIM (biofeedback), which helps some patients to objectify the method. Referral to a behavioral therapist for augmentation strategies (general relaxation and gum chewing) and cognitive behavioral therapy for rumination disorder (CBT-RD) can be used as adjuncts.[42][43](B3)
Medical Therapy
Limited data is available concerning medical therapy for rumination syndrome. Generally, pharmacotherapy for rumination syndrome should be reserved for patients who fail initial management with behavioral therapy. Pauwels et al. indicated in a small cross-over study that baclofen 10 mg three times a day reduces flow events and improves patient-reported symptoms in rumination syndrome, with similar results reported in different studies.[44][45] (A1)
Baclofen counteracts transient lower esophageal sphincter (LES) relaxations by increasing the basal LES pressure, thereby limiting regurgitation episodes. Tack et al. indicated in a cross-over study for functional dyspepsia that buspirone has positive gastric fundus relaxation properties, which might benefit patients with rumination syndrome.[30] There are no specific studies, including the use of buspirone in rumination syndrome, but the expert review considered a trial of buspirone for rumination syndrome in refractory cases as reasonable.[46]
Differential Diagnosis
- GERD
- Achalasia
- H. pylori infection
- Gastritis
- Peptic ulcer disease
- Celiac disease
- Irritable bowel syndrome
- Small intestinal bacterial overgrowth
- Eosinophilic gastroenteritis
- Gastroparesis
- Cyclic vomiting syndrome
- Gastric carcinoma
- Eating disorders (anorexia nervosa, bulimia nervosa)
- Esophagitis
- Esophageal stenosis
- Esophageal cancer
- Esophagogastric junction outflow obstruction
- Functional dyspepsia[47]
Prognosis
Rumination syndrome is considered an acquired habit and is therefore reversible. Diaphragmatic breathing proved in multiple studies to be of benefit by decreasing regurgitations.[46][39][27] Additionally, pharmacologic (baclofen, buspirone) and non-pharmacologic treatment modalities (CBT, chewing gum, general relaxation) are available. To the best of our knowledge, there is no data to show that rumination syndrome is associated with decreased survival. However, it can be associated with symptoms of weight loss and social anxiety with avoidant behaviors.
Moreover, limited data suggest that symptoms in patients with rumination syndrome can recur. A 2018 study evaluating 47 adolescents with rumination syndrome over 12 months reported continued improvement in rumination symptoms over time with a cessation of rumination symptoms for at least six months in 20% of the patients.[48] They concluded that intensive behavioral treatment of rumination syndrome leads to long-term improvement; however, treatment duration may be extended.
Complications
Rumination syndrome is generally considered a benign condition [6][49], but it can cause mental and physical distress affecting the quality of life.[33] Frequent regurgitations can also result in significant weight loss, especially in adolescents, and could result in a diagnosis of an eating disorder disguised as rumination syndrome.[50] Furthermore, electrolyte disturbances and dental damage have been described but are more frequently seen in therapy-refractive cases.[4] Research has found that patients with rumination syndrome often have accompanying anxiety, depression, and somatization necessitating long-term cognitive behavioral therapy to help with symptoms.
Deterrence and Patient Education
It is essential to take a proper clinical interview and correctly differentiate between vomiting and regurgitation. Rumination syndrome is severely underdiagnosed, which is most likely related to wrongly labeling regurgitation as vomiting. Differentiating between these two entities can help establish the diagnosis sooner and prevent prolonged suffering by the patient. As most patients tend to wait years for the right diagnosis, patient education about the benign course and non-pharmacologic treatment options like diaphragmatic breathing are crucial to establishing a patient's understanding of the disease and eliciting compliance with behavioral modifications. Prolonged intensive cognitive-behavioral therapy is often required, and patients need repetitive training to learn the diaphragmatic breathing pattern. Consistent patient education regarding the disease and behavioral modifications is essential for the improvement in patients' symptoms.[48]
Enhancing Healthcare Team Outcomes
Rumination syndrome is considered relatively rare because there is a lack of good data. Patients can have long-standing, nonspecific symptoms that manifest similarly to other conditions like GERD or gastroparesis. It is essential to rule out any potential structural cause of the symptoms using additional testing if necessary. Diagnosing rumination syndrome can be challenging, as it is a clinical diagnosis based on the Rome IV criteria and many distractors are often present. Esophageal impedance and high-resolution manometry can help in identifying rumination syndrome but is not readily available in each hospital. The correct diagnosis is required before helpful, noninvasive treatment modalities like diaphragmatic breathing can be used. These treatment modalities can greatly improve clinical outcomes for these patients.
Once the diagnosis is made, clinical psychologists and behavioral therapists play a crucial role in treating these patients with intensive cognitive behavioral therapy, especially if they have underlying/associated psychiatric diseases. The clinical nurse helps educate the patients about the benign nature of this disease and helps augment medical therapy by ensuring patient understanding of the behavioral therapies. The nurse can also help the clinical team by educating the patient on proper diaphragmatic breathing techniques and ensuring compliance with them at every visit. A collaborative interprofessional team of physicians, behavioral therapists, and nurses can optimize existing treatment strategies for these patients and greatly improve their clinical outcomes.[Level 5]
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