Dyssynergic defecation and defecation disorders

Chapter 32

Dyssynergic defecation and defecation disorders Mercedes Amieva-Balmori, José María Remes-Troche Digestive Physiology and Motility Lab, Medical Biological Research Institute, Veracruzana University, Veracruz, México

Key points ● Dyssynergic ● ● ● ● ●

defecation (DD) is an acquired behavioral disorder that is characterized by the inability to coordinate the abdominal and pelvic floor muscles to evacuate stools. Paradoxical anal contraction, impaired anal relaxation and inadequate abdominal and rectal propulsive forces during defecation are the main mechanisms associated with DD. The diagnosis of DD requires a comprehensive approach that includes physical examination, anorectal manometry, balloon expulsion test and imaging studies. Biofeedback therapy is considered the gold standard for the treatment of DD and has been given a Grade A recommendation by the American and European Societies of Neurogastroenterology and Motility. Solitary rectal ulcer syndrome (SRUS) is associated with one or more rectal ulcers, prolonged straining, use of digital maneuvers and DD in up to 80% of patients. Anorectal structural abnormalities such as rectocele, intussusception and descending perineum syndrome can be present in asymptomatic subjects. Therefore, correlation with symptoms of difficulty with defecation is esential before considering surgery.

Introduction Chronic constipation is one of the most prevalent gastrointestinal disorders encountered by primary care physicians or subspecialty physicians and surgeons globally. The estimated overall prevalence in the community is as high 14%, and is of similar magnitude across the world [1]. Prevalence rates are higher in women, older individuals, and those of lower socioeconomic status [2]. Pathophysiologically at least three subtypes of primary chronic constipation have been described, with substantial overlap: (a) normal transit-constipation (most often present in irritable bowel syndrome patients), slow-transit constipation (also known as colonic inertia) and anorectal evacuatory disorders (also known as outlet disorders) [2]. Evacuatory disorders are the consequence of the inability to coordinate the abdominal and pelvic floor muscles to evacuate stools due to functional or structural defects; dyssynergic defecation (DD) is a common type of evacuation disorder that is the consequence of functional abnormalities of the pelvic floor and anal sphincter muscles involved in stool evacuation. In this chapter, we will review the spectrum of anorectal defecation disorders as well as other structural disorders such as solitary rectal ulcer syndrome (SRUS), rectal mucosal intussusception, descending perineum syndrome and rectal prolapse.

Dyssynergic defecation Definition and epidemiology This evacuation disorder accounts for one-third of cases of chronic constipation in tertiary referral centers [3, 4]. In ­community-based epidemiological studies in the United States, the overall age-adjusted and sex-adjusted prevalence (per 100 individuals) of the overall evacuation disorders is 11.0 (95% CI 8.7–13.3), and they are more frequent in women [5]. Dyssynergia (from the Greek root dys = abnormal and synergia = cooperation, coordination) is a word that has been used to describe any disturbance of muscular coordination. Stool evacuation requires coordination between the push effort and relaxation of the pelvic floor muscles and anal sphincters [6]. When healthy subjects attempt to defecate there is a synergic Clinical and Basic Neurogastroenterology and Motility. https://doi.org/10.1016/B978-0-12-813037-7.00032-7 © 2020 Elsevier Inc. All rights reserved.

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process wherein they generate adequate propulsive forces (usually an increase in the rectal pressure higher than 45mmHg) synchronized with relaxation of the puborectalis muscle and the external anal sphincter [4, 6]. Thus, a positive pressure gradient is produced between the rectum and anal orifice and, this coordination facilitates the expulsion of feces (Fig. 1) [7]. Thus, dyssynergic defecation (DD) is a term that has been used to describe the incoordination during the process of defecation and has been endorsed by the Rome criteria [8]. Most patients are unable to coordinate abdominal, rectal, anal and pelvic floor muscles during attempted defecation and this incoordination manifests as either paradoxical anal contraction, inadequate anal relaxation or impaired rectal or abdominal propulsive force [9, 10]. Preston and Lennard-Jones coined the term “anismus” to describe a failure of the normal inhibition resting activity of the anal canal (using electromyography) during expulsion of a rectal balloon [11]. Subsequently, several terms have been used to describe this entity, including anismus [9], [11], pelvic floor dyssynergia [9], obstructive defecation [11], paradoxical puborectalis contraction [12], pelvic outlet obstruction [13], and spastic pelvic floor syndrome [14]. However, Rao in 1998 [9] was the first to use and provide a description and classification of DD using conventional solid state anorectal manometry (ARM). In the original description Rao proposed three different patterns of DD, but in a further study a fourth pattern was described [10]. The four patterns of (DD) that has been described using anorectal manometry (Fig. 2) are: • Type 1 is characterized by a paradoxical increase in the residual anal pressure in the presence of adequate propulsive

pressure, that is, increase in intrarectal pressure (≥45mmHg).

FIG. 1  Stool evacuation requires coordination between straining and relaxation of the pelvic floor muscles (puborectalis) and anal sphincters (external and internal). (A) Anal canal in during resting. Puborectalis muscle contracts toward the pubis closing the anorectal angle, and external and internal sphincters maintains its resting tone. (B) During the defecation, normally, a synergic process occurs and the rectum generate adequate propulsive forces synchronized with relaxation of the puborectalis muscle and the external anal sphincter. Thus, a positive pressure gradient is produced and anal relaxation appears. This anorectal coordination allows the expulsion of feces from the rectum through the anal canal. If the rectum does not generate appropriate propulsive forces (lack of pushing effort) (C) or if either a paradoxical contraction or lack of external sphincter relaxation occurs (D), then dyssynergic defecation appears. In both cases, the absence of a positive gradient does not allow the expulsion of feces.



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FIG. 2  This series of conventional manometry and high-resolution manometry tracings reveals patterns that are commonly seen during attempted defecation in a healthy individual (top panel) and in patients with dyssynergic defecation. In a normal pattern of defecation, the subject can generate a good pushing force (increase in intra rectal pressure) and simultaneously relax the anal sphincter. In contrast, patients with dyssynergic defecation exhibit one of four abnormal patterns of defecation. In type I dyssynergia, the subject can generate an adequate propulsive force (rise in intra rectal pressure ≥40mmHg) along with paradoxical increase in anal sphincter pressure. In type II dyssynergia, the subject is unable to generate an adequate propulsive force; additionally there is paradoxical anal contraction. In type III dyssynergia, the subject can generate an adequate propulsive force but there is either absent relaxation (a flat line) or inadequate (≤20%) relaxation of anal sphincter. In type IV dyssynergia, the subject is unable to generate an adequate propulsive force together with an absent or inadequate relaxation of anal sphincter.

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• Type 2, characterized by an inability to generate adequate expulsive forces, i.e., no increase in intrarectal pressure, to-

gether with a paradoxical increase in residual intraanal pressure. • Type 3, characterized by generation of adequate expulsive forces, but absent or incomplete (<20%) reduction in in-

traanal pressure and • Type 4, characterized by an inability to generate adequate expulsive forces, that is, no increase in intrarectal pressure

and absence of incomplete reduction in residual intraanal pressure. In Table 1, Rome IV [8] criteria for functional evacuatory disorders including DD are shown. According to these criteria, patients should undergo functional and imaging anorectal test to establish their diagnosis.

Pathophysiology Nowadays, DD is considered an acquired, behavioral disorder of defecation [9, 15]. Although it is difficult to identify which is the most important mechanism, dyssynergia is a consequence of multiple abnormalities that include: obstetric or back injury or dysfunction of the gut–brain axis, faulty toilet habits, painful defecation, inappropriate learning of the process of defecation during childhood (either owing to behavioral problems or parent–child conflicts), rectal hyposensitivity, slow transit constipation, excessive straining, involuntary anal spasm during defecation, loss of inhibitory neurons in the anal canal muscles, and posture abnormalities [9, 10, 15]. Anxiety and/or psychological stress may also contribute to the development of DD by increasing skeletal muscle tension, and some studies have reported history of sexual abuse as well [15–17]. Recent studies have shown that muscular dyssynergia, inadequate propulsive forces, and a hybrid of both disturbances are uncorrelated, suggesting that the pathophysiology of DD and inadequate propulsive forces are distinct (Figs. 1 and 2) [18]. Earlier studies suggested that paradoxical anal contraction or involuntary anal spasm during defecation may cause this problem [11].Consequently, myectomy of the anal sphincter was performed, but only 10–30% of patients improved [19]. Likewise, paralyzing the anal sphincter muscle with botulinum toxin injections produced minimal improvement [20]. Hence, either spasm or inability to relax the external anal sphincter is unlikely to be the sole mechanism that leads to DD. Body position, sensation of stooling and stool characteristics can influence defecation [21]; even healthy individuals may show dyssynergia in the supine position despite having normal function and stool expulsion in a sitting position [21]. In a comparative study 29% of patients with dyssynergia exhibited abnormal postures during defecation compared to 2% of healthy controls [22]. Also, it has been shown that up to 76% of the patients with a dyssynergic posture (using pictograms) had a manometric diagnosis of DD [23].

Diagnosis Symptoms evaluation Dyssynergia is frequently associated with constipation symptoms such as excessive straining, feeling of incomplete evacuation, hard stools, and digital facilitation of bowel movements [9, 10]. In a prospective study, excessive straining was the

TABLE 1  Rome IV criteria for functional defecation disorders Diagnostic criteria for functional defecation disordersa 1. The patient must satisfy diagnostic criteria for functional constipation and/or irritable bowel syndrome with constipation 2. During repeated attempts to defecate, there must be features of impaired evacuation, as demonstrated by two of the following three tests: a. Abnormal balloon expulsion test b. Abnormal anorectal evacuation pattern with manometry or anal surface EMG c. Impaired rectal evacuation by imaging Patients that fulfill the criteria can be classified in two subcategories: A. Diagnostic Criteria for Inadequate Defecatory Propulsion Inadequate propulsive forces as measured with manometry with or without inappropriate contraction of the anal sphincter and/or pelvic floor muscles B. Diagnostic Criteria for Dyssynergic Defecation Inappropriate contraction of the pelvic floor as measured with anal surface EMG or manometry with adequate propulsive forces during attempted defecation. a

Criteria fulfilled for the last 3 months with symptom onset at least 6 months before diagnosis.



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most common symptom (85%) followed by a feeling of incomplete evacuation (75%), the passage of hard stools (65%) and a stool frequency of <3 bowel movements per week (62%). [9] In this study up to 66% of patients used digital maneuvers to facilitate defecation. However, symptoms (e.g., digital disimpaction, anal pain) do not consistently distinguish patients with dyssynergia from those without [24, 25]. Thus, symptoms are good predictors of transit time but poor predictors of pelvic floor dysfunction. Thus, the criteria for functional dyssynergic disorders must rely on both symptoms and physiological testing [8]. Usually, patients do not readily admit that they use digital maneuvers to disimpact stool or splint their vagina to facilitate defecation. Also, several studies have shown that a substantial number of patients with DD have overlapping features of IBS that could be effectively treated with biofeedback therapy similar to patients with isolated dyssynergia [26]. However, by establishing a trustworthy relationship or through the help of symptom questionnaires or stool diaries, especially a constipation stool diary App now available, it may be possible to identify the precise nature of their bowel dysfunction.

Digital rectal examination Digital rectal examination (DRE) is a key component of physical examination in patients with anorectal disorders, but is rarely performed, except for perhaps a cursory exam prior to colonoscopy [27, 28]. This problem is further compounded by a lack of knowledge on how to perform a comprehensive DRE [29]. A careful perianal and DRE may reveal a stricture, spasm, tenderness, mass, blood or stool [27]. If stool is present, its consistency should be noted and the patient should be asked if they are aware of its presence. A lack of awareness of stool in the rectum may suggest rectal hyposensitivity. It is useful to assess the resting and squeeze tone of the anal sphincter and puborectalis muscle by asking the subject to squeeze. More importantly, the subject should be asked to push and bear down as if to defecate [27, 30]. During this maneuver, the examiner should perceive relaxation of the external anal sphincter and/or the puborectalis muscle, together with perineal descent, and simultaneously a hand placed on the abdomen should feel a strong abdominal push effort [27–30]. An absence of these normal findings should raise the index of suspicion for DD, and then proceed with further evaluation. Tantiphlachiva and Rao et al. [30] in a prospective evaluation of 187 patients with DD found that sensitivity and specificity of DRE for identifying dyssynergia in patients with chronic constipation is 75% and 87%, respectively; with a positive predictive value of 97%. Thus, DRE is a reliable tool for identifying dyssynergia in patients with chronic constipation and could facilitate the selection of appropriate patients for further physiologic testing and treatment.

Balloon expulsion test Inability to expel solid stool from the rectum is a key feature of patients with constipation characterized by symptoms of an evacuation disorder, such as DD. The balloon expulsion test (BET) is a direct method by which to assess this function [31]. This is a simple, office-based test that is indicated as a first-line screening investigation for assessment of the ability to evacuate [24]. With a patient lying in the left lateral position with hips and knees flexed, a lubricated, preferably nonlatex balloon attached to a plastic catheter is inserted into the rectum and inflated with 50mL of warm water. The patient is then seated on a commode in privacy and asked to expel the balloon [32]. The ability (or inability) to expel the balloon and the time taken for expulsion is recorded. Although reported cut-offs for normality vary, the generally accepted limit for expulsion is between 1 min and 3 min [33]. Expulsion times longer than this can indicate disordered evacuation [25, 32]. Although often considered to be synonymous with DD, it is pertinent to note that the sensitivity and specificity of this test is variable (ranging between 68–94% and 71–81%, respectively) [30, 32, 34]. Thus, BET in isolation is not sufficient to clearly diagnose an evacuation disorder [31, 35]. However, studies do indicate that a positive result can predict response to biofeedback therapy, [36–38] although this finding is not consistent across all studies [39]. Shah et al. [40] in a recent systematic review and meta-analysis of 15 studies concluded that the performance characteristics of BET could support its use as a point of service test to screen for DD in chronically constipated subjects, but by itself is not diagnostic.

Anorectal manometry Anorectal manometry (ARM) is a technique of simultaneously recording intraluminal pressure changes at multiple levels. It allows assessment of anorectal motor activity, both at rest and during maneuvers that simulate multiple physiological situations (recto-anal inhibitory reflex, retention effort, defecation maneuver, Valsalva reflex) [34, 35]. As mentioned ­before, using conventional ARM (solid-state catheter) four types of DD were originally described by Rao (Fig. 2) [9, 10, 34, 35]. The most useful metrics to evaluate simulated defecation and diagnose DD are recto anal gradient and the defecation index [7, 34, 35]. Recto anal gradient is defined as rectal pressure minus residual anal pressure, hence a positive gradient indicates a normal defecatory maneuver using high resolution manometry. Defecation index is a ratio derived by dividing, the maximum intrarectal pressure by the minimum residual anal pressure during a simulated defecation maneuver. A value lower than 1.2 is considered abnormal and suggests DD [7, 9, 10].

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In the last decade, more sophisticated catheters and systems with greater fidelity and spatiotemporal topography such as the high-resolution [HR-ARM] and high-definition [HD-ARM] have been available that provide a better delineation of anatomy and physiology of the anorectum [7, 41, 42]. These techniques provide time-space visualization (topographic or 2-3-plane mode) as spatially continuous measurements are obtained by interpolation between near sensors, as well as a clearer assessment of anal/rectal pressure changes, without interference from catheter shifting with pelvic floor movements. The technique is more intuitive and reproducible and has better inter-observer agreement when compared to the ­conventional procedure [43, 44]. The four patterns and types of dyssynergia described by Rao can also be observed with HR-ARM (Fig. 2) [45]. Most recently, Ratuapli et al. [24] using a complex principal components analysis of pressure data from HR-ARM classified patients with DD into four different distinct motor patterns or phenotypes, three of which are similar to these described by Rao et al. [9] subtypes. However, these findings need further investigation. Besides diagnosis and classification of dyssynergic patterns, HR pressure topography (HRPT) can reveal the differential involvement of anal sphincter components that may explain the underlying pathophysiology of DD [46, 47]. For example, recently, eight different subtypes of DD patterns have been described using the HR-ARM (a catheter that has 12 sensors) and these includes subtypes where puborectalis appears to be dyssynergic in isolation, whereas external anal sphincter shows normal relaxation [48]. According to this classification, dyssynergia types I and II are subdivided in: Type I or II-P (paradoxical contraction of puborectalis alone), Type I or II-A (contraction of external anal sphincter alone) and Type I or II-D (contraction of both puborectalis and external anal sphincter, also named as diffuse dyssynergia). Thus, it seems that puborectalis and external anal sphincter may independently cause dyssynergia; and indeed, abnormal contractions of the puborectalis muscle are often seen in obstructed defecation, and patients with these abnormal contractions seem to respond favorably to biofeedback treatment [35–37]. Further studies are needed to ascertain the role of puborectalis muscle in different DD patterns. It is important to mention that, although DD patterns are reproducible [9] and has high interobserver agreement rates especially for type I and IV using HR-ARM [18], several studies have found that these dyssynergic patterns were also observed in nearly 90% of asymptomatic controls and in chronic proctalgia without constipation [18, 49]. These findings are partly explained by a non-physiologic position during the test, i.e., pushing in the left lateral position with an empty rectum [21]. Effective explanation of the maneuvers and patient motivation during the test can provide accurate results. In one study, coaching increased the intrarectal pressure and increased the recto anal pressure gradient during attempted defecation and changed the manometric findings from “pathologic” to “normal” values in 12/39 with dyssynergic defecation [50]. Thus, not only manometry but combined abnormalities with other modalities (i.e., balloon expulsion, and imaging) are required for making a diagnosis of this DD [51].

Defecography Barium (X-ray) defecography, or evacuation proctography, is an established clinical tool for the diagnosis of evacuation disorders [31, 52]. Defecography is a dynamic fluoroscopy study of evacuation performed in the sitting position, after placing 150mL of barium paste into the patient’s rectum. It provides useful information about structural changes such as rectoceles, rectal prolapse, and intussusception, and DD and descending perineum syndrome [53]. However, methodological differences and poor inter- observer agreement has limited its overall usefulness [54]. Magnetic resonance (MR) defecography or dynamic pelvic MRI can evaluate pelvic floor anatomy, dynamic motion, and rectal evacuation simultaneously. It provides an excellent resolution of anal sphincters, levator ani muscles and soft tissue surrounding the rectum without radiation exposure [55]. Limitations include its high cost, lack of availability, and possible low sensitivity to detect rectal intussusception because it is more difficult to evacuate the contrast compared to barium defecography. Defecography or MR defecography are often used as an adjunct test when anorectal manometry and balloon expulsion tests are equivocal, or for patients with normal manometry but with prolonged balloon expulsion times [56].

Treatment The treatment should be customized for each individual, taking into consideration patient’s symptoms, underlying pathophysiology, age, co-morbid conditions, patient’s concerns and expectations [4]. In all subjects, the first step of treatment includes a detailed clinical assessment and correction of coexisting issues such as avoiding constipating medications, adequate fiber (up to 25g per day) and fluid intake, and regular exercise. Also, patients should receive instructions regarding timed toilet training and effective straining methods such as educate the patient to attempt a bowel movement at least twice a day, usually 30min after meals. Patients with fecal impaction, or those confined to the bed or requiring fluid restriction should not be given fiber supplements. Laxatives and secretagogues can be used as an adjunctive treatment along with biofeedback therapy, especially in patients with slow colonic transit or IBS [57].



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FIG. 3  The rectal and anal pressure changes, and manometric patterns in a patient with dyssynergic defecation, before and after biofeedback showing paradoxical anal contraction at baseline that improved after six sessions of biofeedback therapy.

Biofeedback therapy (see Chapter 37) is the best treatment option for DD. It is an instrument-based “operant conditioning” technique [58]. The goals are (1) to correct the dyssynergia or incoordination of abdominal and pelvic floor muscles during evacuation, and (2) to improve perception of rectal filling in patients with impaired rectal sensation (Fig. 3). Both short-term and 1 year long-term outcome studies have shown that biofeedback is superior to standard therapy alone in patients with DD [59]. A meta-analysis of seven studies involving biofeedback compared to any other treatment suggested that biofeedback conferred a six-fold increase in the odds of treatment success (odds ratio 5·861 (95% CI, 2·2– 15·8)) [60]. Predictors for successful therapy include harder stool consistency (P=0.009), greater willingness to participate, higher resting anal sphincter pressure, and prolonged balloon expulsion time, with sensitivity and specificity of 0.79–0.81, respectively [61]. A longer duration of laxative use was associated with poor outcome [38]. DD is associated with significant impairment in QOL [62]. In a prospective RCT of 100 patients, biofeedback therapy, administered at home or in-office improved most QOL domains in patients with DD. Based on the strength of evidence, biofeedback therapy is recommended for the short-term and long-term treatment of constipation with DD (Level I, Grade A) (Table 2) [63].

Other defecations disorders Solitary rectal ulcer syndrome (SRUS) Definition and pathophysiology Solitary rectal ulcer syndrome (SRUS) is a less common rectal disorder characterized by either single (most common presentation) or multiple ulcerations of the rectal mucosa associated with the passage of blood and mucus and specific histologic changes in subjects with severe constipation [64]. The estimated prevalence is 1 in 100,000 people per year and about 80% of patients are <50 years [65]. Gender distribution is either equal or slightly higher in females [65, 66]. The pathogenesis of SRUS is unclear, but various factors associated with local mucosal ischemia include: (a) the presence of excessive straining, (b) lengthening of rectal mucosa during straining that predisposes to rectal mucosal prolapse and intussusception, (c) dyssynergic defecation, (d) rectal hypersensitivity and (e) direct trauma to the mucosa during bowel movements in the patient who suffers from constipation [67, 68]. It has been suggested that the intussuscepting rectal mucosa may be subjected to repeated trauma during straining and this over time may cause ischemic injury and ulceration. Although this hypothesis seems plausible, it remains unproven. Rectal mucosal intussusception is seen in healthy subjects, but rectal prolapse and SRUS are rare [69, 70]. Furthermore, not all patients with rectal prolapse have SRUS and vice versa [71]. Hence, it has been suggested that rectal prolapse and SRUS are two disparate conditions. In a prospective evaluation of 13 patients Rao et al. found that 82% of patients exhibited dyssynergia with paradoxical anal contraction (type I dyssynergia) during anorectal manometry suggesting that incoordinated defecation with excessive straining overtime may lead to the development of SRUS [72]. Self-induced trauma by self-instrumentation can occurred when individuals attempt to remove

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TABLE 2  Summary of randomized controlled trials of biofeedback therapy for dyssynergic defecation Subjects, randomization and interventions

Author

Trial design

Rao et al. [37]

Biofeedback (manometry pressure) vs. Standard treatment vs. Sham biofeedback

n = 77 1:1:1 distribution Standard: diet, exercise, laxatives Sham: Progressive muscle relaxation with anorectal probe

Rao et al. [59]

Biofeedback (manometry pressure) vs. standard therapy

Chiarioni et al. [36]

Number of biofeedback sessions and duration

Primary outcome

Results

Biweekly, 1 h, maximum of six sessions over 3 months

1. Presence of dyssynergia 2. Balloon expulsion time 3. Number of complete spontaneous bowel movements 4. Global satisfaction

Dyssynergia corrected at 3 months in 79% with biofeedback vs. 4% sham and 6% in Standard group, p < 0.05

52; Short term therapy 26 = long term study 12 = biofeedback 13 = standard therapy Standard: diet, exercise, laxatives (titrated)

1 year; 6 active therapy sessions and 3 reinforcement sessions at 3 month intervals

Number of complete spontaneous bowel movements Secondary outcome; Presence of dyssynergia Balloon expulsion time Global satisfaction

No of CSBM/ week increased significantly in biofeedback (p < 0.001) Dyssynergia pattern normalized (p < 0.0010) Balloon expulsion improved and colonic transit normalized (p < 0.01)

EMG Biofeedback for slow transit vs. Dyssynergia

52 (49 women) 34 dyssynergia 12 slow transit 6 mixed

5 weekly 30 min training sessions, performed by physician investigator

Symptom improvement None = 1 Mild = 2 Fair = 3 Major = 4

71% with dyssynergia and 8% with slow transit alone reported fair improvement in symptoms

Heymen et al. [62a]

EMG Biofeedback vs Diazepam 5 mg vs. placebo

84 (71 women) 30 biofeedback 30 diazepam 24 placebo

6 bi-weekly, 1 h sessions

Global symptom relief

70% improved with biofeedback compared to 38% with placebo and 30% with diazepam, (p < 0.01)

Chiarioni et al. [62b]

EMG Biofeedback vs. PEG 14.6 gm

109 (104 women) 54 biofeedback 55 polyethylene glycol

3 months & 1 year, 5 weekly, 30 min training sessions performed by physician investigator

Global Improvement of symptoms Worse = 0 No improvement = 1 Mild = 2 Fair = 3 Major improvement = 4

79.6% reported major improvement at 6 and 12 months 81.5% reported major improvement at 24 months



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FIG. 4  Endoscopic image of a solitary rectal ulcer (A). A single shallow ulcer surrounded by a hyperemic polypoid mucosa (B), located on the anterior wall of the rectum is seen at 5 cm from the anal verge.

impacted stool by rectal digitation [73, 74]. In some patients, psychological comorbidities such as an obsessive-compulsive disorder may induce excessive pushing and straining during defecation that leads to SRUS [75].

Diagnosis The diagnosis of SRUS is based on symptoms combined with endoscopic and histological findings. Differential diagnosis includes Crohn’s disease, ulcerative colitis, ischemic colitis, infectious proctitis (amebiasis, lymphogranuloma venereum, syphilis), drug-related ulcers and malignancies [64]. The classical symptoms of SRUS are rectal pain, rectal prolapse, bleeding, tenesmus, passage of mucus, pelvic discomfort as well as a sense of incomplete evacuation. The most common clinical symptom reported is rectal bleeding and up to 26% of patients may be asymptomatic [64, 75]. Usually a delay in the diagnosis is present, because most of the time, rectal bleeding is wrongly associated to other anorectal conditions such as hemorrhoids, inflammatory bowel disease or anal fissure. The median time between presentation and diagnosis varies between 3 months and 30 years [70]. Endoscopically, a single shallow ulcer surrounded by a hyperemic mucosa, often located on the anterior wall of the rectum is seen at 5–10 cm from the anal verge (Fig. 4) [73]. In up to 30% of the cases, multiple lesions may be present. It is essential to obtain a biopsy because SRUS has hallmark histological findings such as: fibromuscular hyperplasia with smooth muscle infiltration of the lamina propria, thickening of the muscularis mucosa, regenerative changes, and distortion of the crypt architecture [76]. Defecography may reveal poor activation of levator muscles, prolonged retention or inability to expel the barium or overt rectal prolapse. As mentioned before, anorectal manometry may reveal rectal hypersensitivity, dyssynergia, abnormal rectal compliance, and inability to expel a balloon [72]. Moreover, it identifies patients who may benefit from biofeedback therapy. Recently, endoanal ultrasonography has proven to be a useful tool to the suspect SRUS due to the presence of some typical findings such as a thickened muscularis propria, thickening of both the internal anal sphincter and external sphincter, as well as thickened submucosal layer [77, 78].

Treatment The management of SRUS is based on the severity of the disease and it correlates with the presence of symptoms and presence of rectal prolapse. The spectrum of management is from conservative therapy to surgery. In all subjects, stool softeners and bulking agents, bowel retraining, and reassurance to avoid both excessive straining and anorectal manipulation (digitalization, enemas, suppositories) must be recommended. Anecdotally, 5-ASA enema, sucralfate enema, steroid enema, botulinum toxin injection and other agents have been reported to improve symptoms [64]. Bowel retraining with biofeedback therapy is a useful treatment for SRUS; improvement with this intervention ranges from 56% to 75% in ­patients in whom dyssynergic defecation coexists [71]. However, durability of the response or recurrence of SRUS in these patients is unknown. Surgical therapy should be considered for patients with full-thickness (‘significant’) mucosal rectal prolapse. Surgical options include rectopexy, diversion, local excision of the ulcer, rectal mucosectomy, and perineal proctectomy [79, 80]. The evidence regarding which approach is first-line for SRUS is unclear. However, open rectopexy and mucosal resection (Delorme’s procedure) seems popular with a success rate of 42–100% [81].

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Rectal prolapse and intussusception Definition and pathophysiology Rectal mucosal intussusception is a concentric invagination of the partial or entire rectal mucosa during a straining maneuver. The location can be anterior or posterior and it can affect the rectum circumferentially [82]. It may be classified as intra-rectal (intussusceptions may remain internal), intra-anal (extend into the anal canal) or total rectal prolapse (where the rectum passes through the canal). Therefore, the widely used clinical term rectal prolapse corresponds anatomically to an extra-rectal intussusception. The evolution of rectal prolapse starts from excessive straining over time leading to a laxity or weakness of pelvic floor muscles. Over time this leads to connective tissue injury including nerve injury and neuropathy of the pelvic floor with loss of counter-acting resistive force during defecation, thereby leading to rectal intussusception initially, followed by external mucosal prolapse, and eventually a full protrusion of all layers of the rectal wall through the anus [83]. Most patients with rectal prolapse present with anal protrusion, rectal pain, bloody or mucous passage, symptoms of fecal incontinence or obstructed defecation. In severe cases, the large mass cannot reduce spontaneously, and may become incarcerated or strangulated [84]. Both complete rectal prolapse and internal intussusception can occur independently or can be associated with the descent of other pelvic organs, e.g., uterine or vaginal vault prolapse. Dyssynergic defecation that causes chronic excessive straining may coexist, or predispose to rectal prolapse.

Diagnosis Anal inspection may reveal normal anal area, skin excoriation or irritation but when patient bears down in a sitting position, the patulous anus and prolapsed rectum can become visible. Rectal mucosa is often edematous and sometimes friable with ulcerated mucosa. Rectal prolapse is graded into four types: grade 1, up to anal verge; grade 2, prolapse outside the anus but reduces spontaneously; grade 3, prolapses outside the anus but can be manually reduced; and grade 4, prolapse cannot be reduced manually [4]. Colonoscopy is useful to rule out the presence of a lead point (e.g., mass) or other pathology that cause rectal bleeding and rule out prolapsing internal hemorrhoids. Anorectal manometry may reveal low resting sphincter pressure especially in patients with complete rectal prolapse, which predicts poor postoperative continence [85]. Rectal sensation and compliance may be impaired. Recently, using HD-ARM, Benezech et al. [86] have describe a unique pattern (the presence of a narrow band of high pressure in the anal canal during attempted defecation, Fig. 5) that highly suggests the presence of

FIG. 5  Rectal mucosal intussusception detected by high resolution anorectal manometry. During the bearing down maneuver, a narrow band of high pressure appears in the upper anal canal, every time that the rectal pressure increases.



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rectal mucosal intussusception with a positive predictive value between 81–100%. Another study that comapred HRM with 3D-HDM showed a high rate of detection of mucosal intussusception with 3D-HDM [86a]. Defecography, which is performed in a sitting position usually aids diagnosis in patients who report prolapse but have normal physical examination in lateral position. MR defecography may reveal other anatomical defects and other associated pelvic organ prolapse that can aid in assessment of surgical intervention. Three-dimensional (3D)-endoanal ultrasonography may show asymmetry, sphincter defects and thickening of the IAS and submucosa. Demonstration of anal sphincter defect is useful when considering sphincter reconstruction [87].

Treatment Patients with grade 1–2 prolapse without symptoms related to the prolapse do not require surgery. Patients should be advised to keep their stools soft and treat the associated conditions such as dyssynergic defecation with biofeedback therapy and avoid excessive straining [72]. However, symptomatic grade 3–4 prolapse requires surgery [83]. There are multiple surgical options, and both abdominal and perineal approaches are available. The surgical approach should be individualized based on each patient’s symptoms, bowel habits, anatomy, and co-morbidity. The abdominal approach allows the surgeon to deal with factors that are associated with rectal prolapse including a deep cul-de-sac of the pouch of Douglas, lack of sacral fixation, and redundancy of the sigmoid colon. Resection of sigmoid colon is preferably performed in patients with significant redundancy, but should be avoided in patients with the combination of diarrhea and/or incontinence as these symptoms may worsen with resection [83]. The perineal approach has a lower perioperative morbidity and is reserved for elderly patients, patients with significant co-morbid illness, or those who have previous extensive pelvic surgery [84]. Overall, existing data demonstrate no differences in recurrence rates when comparing abdominal and perineal approaches, although there appears to be a trend towards improved continence with the abdominal techniques. Recent studies have shown that laparoscopic and robotic colorectal resection is a safe and feasible option; however, more studies are required [88].

Descending perineum syndrome Definition and pathophysiology Descending perineum syndrome is characterized by the bulging and excessive descent of the perineum during defecation, often with a weak pelvic floor, and can be demonstrated with either physical examination or defecography [4]. Typically, patients present with a long history of chronic straining and a sensation of incomplete evacuation followed by a sensation of obstruction. Over time, complaints of mucoid discharge, bleeding, and perineal irritation may occur due to the prolapse of the anterior rectal wall [89]. It is best described as a vicious cycle of straining and constipation, which leads to more straining and exacerbation of the anatomical abnormality and descent of the perineum. Studies have demonstrated an association with pudendal neuropathy but studies were conflicting regarding the correlation between degree of descent and severity of neuropathy [90].

Diagnosis The precise definition of descending perineum syndrome varies because of an overlap between normal and abnormal values. Defecography that reveals a perineal descent of >3 cm on straining, as measured from resting, is highly suggestive of a weakened perineum. This descent is termed increased dynamic perineal descent, as opposed to increased fixed perineal descent when there is a 4-cm descent seen at rest [91]. MR defecography also allows for better delineation of the soft tissue structures of multiple compartments of the pelvis, allowing for a broader visualization of other potential pelvic floor defects, which is particularly useful for preoperative evaluation and can increase the rate of successful surgical outcomes. Studies that compared conventional defecography with MR defecography for the diagnosis of perineal descent suggest that it is better seen in the sitting position compared with the supine position [92]. However, factors including how the test is ordered, whether it includes evacuation phase, and the nature of rectal contrast that may each determine its sensitivity.

Treatment Treatment consists of correcting the excessive straining effort and or dyssynergic defecation when it coexists using biofeedback therapy. Although not Food and Drug Administration (FDA)-approved, specialized commode seats and use of an artificial device—a polycarbonate plate with two separate holes for passing urine and stool and a built in hump which supports the perineum when sitting on a commode are available and have been suggested as ways to potentially alleviate symptoms [93]. The device together with biofeedback therapy may improve symptoms in about 50% [94]. At present, there is no ­consensus

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on a surgical procedure for the treatment of descending perineum syndrome. Abdominal sacrocolpoperineopexy and obliteration of the posterior cul-de-sac, transvaginal reconstruction and anchoring of perineal body, and transanal stapling procedure have all been reported but their usefulness is limited by the small sample size [93].

Rectocele Definition and pathophysiology Rectocele is an outpouching of the rectal wall through a weakened rectovaginal septum (anterior) and rarely toward the sacrum (posterior). Rectocele is common in women with certain risk factors including aging, obesity, obstetric injury, multiple vaginal deliveries, and presence of DD has been proposed [95]. Many of these risk factors can be interconnected and are additive in their effects, such as, underlying obstetric injury couples with age-related degeneration of connective tissue, and chronic increase in intra-abdominal pressure from obesity, or frequent straining can compound the damage. A recent study using 3D MRI characterized the structural deformations of the posterior vaginal wall in women with rectocele [96]. They demonstrated a consistent downward displacement of the upper two-thirds of the vagina as well as a folding of the posterior vaginal wall. As prior imaging of rectoceles has focused almost entirely on the anterior wall of the rectum, better characterization of the movements of the vagina itself may help explain some of the divergent symptoms among patients with rectocele. Asymptomatic rectocele had been reported in 45% of healthy subjects but symptoms such as a feeling of incomplete evacuation, prolonged straining, sensation of blockage or inability to evacuate, fecal soiling, dyspareunia, anorectal/vaginal pain, and urologic symptoms can be reported [97]. However, caution must be exercised before attributing these symptoms to just an obvious bulge because it seems to have little clinical correlation with the size of the rectocele [98].

Diagnosis Defecography is the gold standard test for the diagnosis of rectocele (Fig. 6). It can measure rectocele size, quantify stool retention and provide information regarding coexisting conditions such as rectal mucosal intussusception or excessive perineal descent. MRI provides good visualization of the rectocele, and dynamic MRI can correlate with pelvic floor movements [31]. Images during the defecation phase can identify abnormal pelvic organ descent that has been found to be associated with a presence of large rectocele. Rectocele may be associated with DD. However, most of the patients with rectocele had normal balloon expulsion time [99]. High resting anal sphincter pressure has been reported, but rectal sensation and rectal compliance are usually normal, and there are no specific anorectal manometric findings for a rectocele.

FIG. 6  Barium defecography reveals an anterior rectocele (white arrow) during the push effort.

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Treatment Clinical correlation is essential before labeling a rectocele as clinically significant. Although rectoceles >3 cm with retention of barium or stool is generally considered to be clinically significant, and surgical repair improves symptoms in most patients, the symptom improvement was poorly correlated with the postoperative dimensions of the rectocele [98]. Thus, the first approach is to treat any underlying or coexisting defecation disorders or urogynecological disorders if present and those that may be related to the patient’s symptoms. In patients seeking relief from difficult defecation and who are noted to have a rectocele, a more thorough investigation particularly to exclude DD is warranted before simply offering surgical repair of rectocele. Even if the primary problem is vaginal symptoms, investigation of bowel function is indicated because chronic constipation, even if unrelated to the rectocele, may predispose to a recurrence of the prolapse. In general, surgery is appropriate for symptomatic patients with large rectocele (>3 cm) who fail conservative treatment or those with coexisting symptomatic pelvic organ prolapse [99]. The technical goal of preventing the rectum from bulging into the posterior vaginal wall can be accomplished by either strengthening the posterior wall of the vagina (by plicating it in the midline, repairing defects, or resuspending it from the sacrum) or reinforcing the front wall of the rectum (also by plication or ventral suspension). Another approach is the interposition of tissue or a graft between the two structures. Recently, partial resection of the rectal wall has been advocated as another method of reinforcing the anterior rectal wall and decreasing redundancy [100].

TABLE 3  Summary of common defecation disorders including pathophysiology, diagnostic tests and treatment Disorder

Pathophysiology

Diagnostic tests

Treatment options

Success rate

Dyssynergic defecation

• Paradoxical anal contraction • Impaired anal relaxation • Inadequate abdominal and rectal propulsive forces during evacuation

• Digital rectal examination • Balloon expulsion test • Anorectal manometry • Defecography

Biofeedback therapy

70%–80%

Solitary rectal ulcer syndrome

• Excessive straining • Mucosal ischemia • Dyssynergic defecation • Rectal hypersensitivity

• Colonoscopy • Histological findings • Anorectal manometry • Defecography

• Aminosalycilates enemas • Sucralfate enemas • Steroid enemas • Biofeedback therapy • Mucosal resection (Delorme´s procedure)

• Anecdotal • Anecdotal • Anecdotal • 56%–75% • 42%–100%

Rectal prolapse

• Excessive straining • Connective tissue injury • Neuropathy • Dyssynergic defecation

• Physical examination • Colonoscopy • High definition anorectal manometry • Defecography • 3-D ultrasound

• Abdominal or perineal surgical approaches

73%–80%

Descending perineum syndrome

• Weak pelvic floor • Excessive straining

• Physical examination • High definition anorectal • Defecography

• Avoid excessive straining • Artificial perineal support using a special commode • Biofeedback therapy • Sacrocolpoperineopexy

• Anecdotal 50% • 50%–70% • Anecdotical

Rectocele

• Weakness of the rectovaginal septum • Neuropathy • Dyssynergic defecation

• Physical examination • Defecography • 3D-ultrasound

• Biofeedback therapy • Pessaries • Surgery for rectocele >3 cm

71% 76%–85% 70%–85%

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Conclusions Dyssynergic defecation and anorectal disorders such as SRUS, rectocele, rectal prolapse and descending perineum syndrome present with a variety of symptoms and result from either structural or functional pelvic floor dysfunction (Table 3). Clinical correlation is essential before labeling an abnormal finding as clinically significant. Together with a detailed history, a thorough physical and digital rectal examination and appropriate testing, will identify most patients. The treatment can be tailored to each specific diagnosis. In patients with constipation and DD, biofeedback therapy should be offered and surgery avoided. Likewise, biofeedback therapy can be useful in SRUS, excessive perineal descent, often because of coexisting dyssynergia. Several surgical approaches including open, laparoscopic, transabdominal approach, transanal approach, and robotic assisted surgery have been advocated and appear to be useful, but only in selected cases of rectal prolapse and rectocele.

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