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BASIC SCIENCE Physiology: evacuation, pelvic floor and continence mechanisms Shashank V Gurjar Oliver M Jones Abstract Faecal continence is defined by the ability to perceive, retain and evac- uate bowel contents at socially convenient times. This is reliant upon normal function of the main involved organs (i.e. rectum, pelvic floor and anal sphincters) together with their associated sensorineural path- ways. Incontinence may occur as a result of dysfunction in any one of these systems or due to factors such as systemic disease, emotion, bowel motility and stool consistency. The act of defaecation is a conscious process that involves interplay between motor and sensory elements, initiated by higher cortical function. Incontinence and evacuatory dysfunction are investigated using specialized tests that assess sphincter function and structure (anorectal manometry, endoanal ultrasound), anorectal and pelvic floor function (defaecating proctography, nerve conduction studies) and luminal integ- rity and colonic function (transit studies and endoscopy). Keywords Anal sphincter; anorectal investigations; continence; defaecation; pelvic floor; rectum Introduction Faecal incontinence is defined as the involuntary loss of faecal material. It is common, with a prevalence in the community estimated at 1.4% and rising to 7% in the elderly.1 Very variable rates, from 10% to over 40%, are reported in residential care and nursing home residents.1,2 Constipation and related functional bowel disorders have been formally defined by the ROME III collaboration.3 They affect up to 25% of the population and comprise a symptom complex associated with infrequent defae- cation, hard stools, difficulty in emptying, straining and a feeling of incomplete evacuation.4 Maintenance of continence is a complex process that involves coordination between multiple neuronal reflexes, sensory and motor pathways, and the key pelvic organs, namely the rectum, pelvic floor and anal sphincters.5,6 An abnormality of any part of the pathway can be associated with dysfunctional defaecation, manifesting as constipation at one end of the scale, or as faecal incontinence at the other. However, a mixed picture, associated Shashank V Gurjar MSc FRCS is a Pelvic Floor Fellow at Oxford Radcliffe NHS Trust, Oxford, UK. Conflicts of interest: none declared. Oliver M Jones DM FRCS is a Consultant Colorectal Surgeon at Oxford Radcliffe NHS Trust, Oxford, UK. Conflicts of interest: none declared. SURGERY 29:8 358 with obstructive defaecation syndrome, is a not uncommon presentation. Several techniques are available that allow assessment of the anatomy and physiological function of the key parts of the pathway. The most important initial step in assessment involves a detailed history (including obstetric history and previous proctological surgery) and physical examination. Functional anatomy Rectum The rectum has a key role in the storage of faeces. Structurally, its wall contains two layers of smooth muscle (longitudinal and circular) in continuity with the rest of the intestinal tract. Its nervous supply is from extrinsic autonomic nerves that act at the submucosal plexuses (Meissner’s and Auerbach’s) con- tained in its walls, which mediate rectal accommodation to distension. Pelvic floor The primary functions of the pelvic floor are to support the viscera of the pelvic cavity, help maintain continence and aid in the process of defaecation. The floor consists of a broad, thin, striated muscular sheet (levator ani) with a central ligamentous structure, which allows the passage of viscera, namely rectum, urethra and the vagina (in females). This striated muscle is composed of four separate muscles, defined by their area of attachment, which span the pubic bone, ischial spine and coccyx posteriorly (puborectalis, pubococcygeus, ileococcygeus and ischiococcygeus). It receives its innervation from branches of the pudendal, inferior rectal, perineal and sacral (S3, S4) nerves. Puborectalis is the most important component forming a U-shaped sling around the rectum; it helps to pull the rectum anteriorly and gives rise to the so-called anorectal angle. Puborectalis can be palpated on digital rectal examination as a taut muscle bulk, lying just above the external anal sphincter at the top of the anorectal ring. Anal canal and sphincters The anal canal measures between 2 and 5 cm in length. It is encircled by the anal sphincter, which itself comprises two key muscular components: the caudal continuation of the circular (involuntary) smooth muscle of the rectum forming the internal anal sphincter, and the surrounding striated muscle (voluntary) of the external anal sphincter. The internal anal sphincter is approximately 3 cm long and 2 mm thick, increasing in thickness with age. Of note, it is shorter in a woman; this fact must be borne in mind when considering anterior perianal pathology in the post-episiotomy woman. It has an intrinsic nerve supply arising from the myenteric plexus; additional excitatory sympathetic innervation is via the hypo- gastric and pelvic plexus, while inhibitory parasympathetic supply is received from S1, S2 and S3 via the pelvic plexus. The external anal sphincter receives its innervation from the pudendal nerve (S2eS4), whilst autonomic supply is from sympathetic sources derived from the hypogastric plexus and its parasympathetic supply comes via the nervi erigentes. It is composed of tonically active ‘slow-twitch’ and phasically active ‘fast-twitch’ fibres. � 2011 Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.mpsur.2011.05.010 BASIC SCIENCE Physiology of continence The maintenance of anal continence is a very complex process dependent on several processes including colonic motility, stool consistency, sensation, rectal compliance, local reflexes, pelvic floor and sphincter function. Colonic motility and stool consistency Even patients with normal sphincters will suffer urgency or actual incontinence if they develop severe diarrhoea (as can occur with ulcerative colitis). It is little surprise, therefore, that in many patients with diarrhoea and incontinence, significant improvements in control will be seen with the use of constipating medications.7 Rectal sensation and compliance The rectum plays a key role in continence, by functioning as a site for temporary storage of faeces. A normal rectum can accommodate significant volumes of faecal residue with minimal alteration in measured rectal pressures. This is termed rectal compliance. Recent animal studies have identified unique receptors, termed rectal intra-ganglionic laminar endings (rIGLEs), which act as slowly adapting mechanoreceptors responsive to tension and rapid distension.8 Rectal compliance is often altered in patients with faecal urgency, constipation and incontinence. Extreme alterations in capacity and compliance can lead to faecal incontinence through a decreased capacity for accommodation or as a consequence of overflow states. Compliance is reduced as part of the normal ageing process, or in inflammatory states (e.g. ulcerative colitis). Normal sensation (the ability to sense that the rectum contains stool) is also fundamental to continence. Local reflexes and anal sensation The best studied of the local reflexes central to faecal continence is the rectoanal inhibitory reflex (RAIR). This is an intrinsic intra- mural reflex that is preserved after spinal cord injury or extrinsic denervation of the rectum. It is not seen in Hirschspring’s disease when myenteric ganglia are absent in the low rectum and for a variable distance proximally. It manifests as a periodic relaxation of the upper internal anal sphincter in response to distension of the rectum, with extent of relaxation dependent upon degree of rectal distension. This permits faecal matter or flatus to come into contact with specialized receptors in the upper anal canal, where‘sampling’ takes place. This process is instrumental in the discrimination of gas from stool and passage of flatus without faecal leakage. If evacuation is not desired, the high resting pressures of the lower part of the internal anal sphincter, coupled with contraction of the external anal sphincter and puborectalis sling, result in return of faecal content to the upper rectum, delaying the process of defecation. An attenuated rectoanal inhibitory reflex may lead to difficulty with evacuation, whilst an exaggerated reflex can result in faecal leakage. Several studies have looked at the impact of rectal excisional surgery on the rectoanal inhibitory reflex and noted that while it is nearly abolished in the early postoperative period, it appears to return, in some form, in due course in the majority of patients.9 SURGERY 29:8 359 Internal and external anal sphincters The internal anal sphincter demonstrates sinusoidal ‘slow-wave’ activity with a frequency of 20e40 cycles/minute and is the main contributor to resting anal pressure, measured at between 50 to 120 mmHg in a healthy individual. Much of this resting pressure is attributable to myogenic tone, an intrinsic property of sphincteric smooth muscle independent of neural input. Addi- tional excitatory input to the internal sphincter comes from sympathetic neural input, whilst parasympathetic nerves to the sphincter are inhibitory and mediated via nitric oxide.10 Isolated damage to the internal anal sphincter typically causes predomi- nantly passive faecal incontinence (leakage). Whilst the external anal sphincter does make a small contri- bution to resting tone, its primary role is that of voluntary contraction of the anal sphincter which can be recruited consciously or as a reflex during times of additional risk of incontinence such as when lifting a heavy object or coughing (see below). A normal external sphincter may generate an additional pressure of between 50 and 200 mmHg. Damage to the external sphincter is strongly associated with urge faecal incon- tinence (the sensation of being unable to ‘hold on’). Puborectalis and the pelvic floor The puborectalis plays a key role in continence. It is thought to achieve this function due to its sling-like anatomy and its effect on the anorectal angle when it is contracted. Sir Alan Parks proposed a ‘flap-valve’ mechanism of continence e namely that in a situation of increased intra-abdominal pressure (e.g. sneezing, coughing or straining), the puborectalis keeps the valve shut by driving the anterior rectal wall against the upper anal canal, and thereby preventing the passage of stool into the lower anal canal.11 Other authors have demonstrated in radio- logical studies that during the Valsalva manoeuvre, the relation between the anterior rectal wall and the anorectal angle is not clearly defined; some studies have shown little difference in the anorectal angle between incontinent patients and a normal control group.12 It is likely that the puborectalis functions as a further deeper sphincter mechanism and complements the activity of the external anal sphincter. Indeed, it has been shown that the puborectalis sling can maintain continence even in the presence of internal and external sphincter dysfunction.12 Physiology of evacuation An awareness of the need to defaecate occurs in the superior frontal gyrus and anterior cingulate gyrus of the cerebral cortex, as a result of a critical level of rectal filling. The process is initiated by faecal matter, which has moved into the lower rectum, causing distension. This leads to stimulation of pressure receptors on the pelvic floor (puborectalis), which in turn trig- gers the rectoanal inhibitory reflex. The upper internal anal sphincter relaxes enabling anorectal sampling to occur. When the anal canal is deemed to have solid contents, and a decision to defaecate is made, relaxation of the pelvic floor occurs in conjunction with a rise in intra-abdominal pressure. The rise in intra-abdominal pressure occurs as a conse- quence of the Valsalva manoeuvre, in association with tensing of the anterior abdominal wall musculature and closure of the glottis. Optimal evacuation is achieved when the subject is in the squatting � 2011 Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.mpsur.2011.05.010 BASIC SCIENCE position which, assisted by hip flexion, further straightens the anorectal angle and allows more effective propulsion of faecal residue.13 In theWesternworld, defaecation in the sitting position is socially preferredwith reduced effect on the anorectal angle.Thenet result is relaxation of puborectalis, straightening of the anorectal angle and slight pelvic floor descent. The external anal sphincter relaxes and rectal contents are evacuated. Further propulsive contractions of the rectum occur until it is fully empty. Once evac- uation is complete, the pelvic floor rises and both sphincters and puborectalis contract as part of a ‘closing reflex’. Physiological testing Anorectal manometry Anorectal manometry provides an assessment of anal sphincter pressures and local reflexes. There are various types of probes and recording systems including water-based catheter balloon systems placed into the distal rectum and withdrawn through the anal canal in a step-wise manner, or the newer solid-state devices that contain micro-transducers to measure anal canal pressure at various points along the length of the catheter. The technique can determine resting and voluntary squeeze pressures of the anal canal (reflecting internal and external sphincter tone respectively) as well as the length of the anal canal itself. Other parameters that might be recorded include testing for the cough or Valsalva reflex (a brief increase in anal tone to counter a sudden rise in intra-abdominal pressure) and the presence of a functional rectoanal inhibitory reflex (a fall in anal resting pressure in response to rectal distension by means of inflation of an intrarectal balloon). This latter reflex is typically absent in Hirschsprung’s disease (congenital lack of intramural rectal ganglia). The duration of external sphincter contraction (endurance squeeze), assessed by asking the patient to perform a sustained anal contraction is another useful test; a low result is often seen in incontinent patients. Sensory testing Rectal balloon insufflation tests provide an indication of rectal sensory function. Usually three variables are measured: first detectable sensation, urge to defaecate and maximum tolerable volume. These parameters may be abnormal in patients with autonomic neuropathy from diabetes or in patients with func- tional and somatic alterations of the rectal reservoir. For example, patients with megarectum may have delayed sensation (hyposensitivity) whilst those with inflammatory bowel disease typically have low volumes for each of these three parameters (hypersensitivity). Clinically, patients with hypersensitivity often have urgency and stool frequency. Rectal sensation can also be evaluated by use of thermal and electric probes. There has also been interest in assessment of anal sensation by these means but the clinical utility of this is uncertain at present. Rectal compliance (reflecting distensibility and accommodation) can also be measured using a barostat but this is not used widely in clinical practice. Figure 1 Endoanal ultrasound of a normal anal sphincter. The endoluminal probe is delineated in this diagram by the dashed lines. The solid white Electrophysiology arrows mark the margins of the external anal sphincter. The unfilled arrows delineate the internal anal sphincter that appears as a black circle because of its high water content. Neurophysiological assessment of the anorectum includes elec- tromyography of the sphincter mechanism, and nerve conduc- tion studies to assess the pudendal and spinal nerves. SURGERY 29:8 360 Electromyographyinvolves the placement of needle electrodes into the puborectalis or external sphincter to assess the state of the muscle and its innervating nerve as a function of its electrical activity during the resting and contractile phase. The procedure can be painful and unpleasant. Increasing adoption of endoanal ultrasound has meant that electromyography is rarely used. Pudendal nerve terminal motor latency (PTNML) is assessed by stimulation of the nerve, as it enters the ischio-rectal fossa at the ischial spines. Prolonged PTNML is associated with idio- pathic faecal incontinence, rectal prolapse, solitary rectal ulcer syndrome and sphincter defects. Endoanal ultrasound Endoanal ultrasound is performed using an internal rotating micro-transducer. It evaluates sphincter integrity and structure. The external sphincter appears as a circumferential hyperechoic structure, while the internal sphincter appears as a hypoechoic (black) inner circle (Figure 1). Sphincter defects and scarring may be seen as ‘incomplete rings’. Defaecating proctography Defaecating proctography utilizes video fluoroscopy and is a dynamic examination, providing structural information as well as assessing function during defaecation. Its use is indicated as part of the work-up of a patient presenting with a picture of outlet obstruction and for many patients with incontinence. The tech- nique requires barium paste to be introduced into the rectum. An additional amount is usually inserted into the vagina in women and oral contrast is given to opacify the small bowel. The patient is then asked to sit on a commode and attempt evacuation during X-ray screening (Figure 2). Several abnormalities can be assessed including measurement of the anorectal angle and position of pelvic floor at rest, during squeeze and defaecation (perineal descent). Proctography may � 2011 Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.mpsur.2011.05.010 Figure 2 Defaecating proctogram. The patient has been given oral contrast to delineate the small bowel, which is dropping down into the recto- vaginal septum to form an enterocoele (dashed line). The patient has also received rectal contrast that delineates a rectocoele (dotted line) and intussusception (indicated by arrows). The patient has a tampon soaked in radiographic contrast medium placed in her vagina. BASIC SCIENCE detect a rectocoele (herniation of the rectal wall through a defi- cient recto-vaginal septum), an enterocoele (descent of the small bowel into the recto-vaginal septum from above) or a rectal prolapse. This rectal prolapse may extend beyond the anal verge (external prolapse or procidentia) or remain within the rectum or anal canal (internal prolapse or intussusception). Magnetic resonance imaging (MRI) technology is used for defaecating proctography in some centres. Summary The mechanisms controlling the processes of continence and defaecation are highly complex and inter-dependent. Failure of SURGERY 29:8 361 any part of the sensorineural pathway or dysfunction of the component organs will lead to disordered continence. Managing such patients requires an informed approach with relevant investigations to identify the cause of their problem and thereby facilitate appropriate management. A REFERENCES 1 Bartolo DC, Paterson HM. Anal incontinence. Best Pract Res Clin Gastroenterol 2009; 23: 505e15. 2 Madoff RD, Parker SC, Varma MG, Lowry AC. Faecal incontinence in adults. Lancet 2004 Aug 14e20; 364: 621e32. 3 Longstreth GF, Thompson WG, Chey WD, Houghton LA, Mearin F, Spiller RC. Functional bowel disorders. Gastroenterology 2006 Apr; 130: 1480e91. 4 Chatoor D, Emmnauel A. Constipation and evacuation disorders. Best Pract Res Clin Gastroenterol 2009; 23: 517e30. 5 Mellgren A. Fecal incontinence. Surg Clin North Am 2010 Feb; 90: 185e94. Table of Contents. 6 Bharucha AE. Pelvic floor: anatomy and function. Neurogastroenterol Motil 2006 Jul; 18: 507e19. 7 Ehrenpreis ED, Chang D, Eichenwald E. Pharmacotherapy for fecal incontinence: a review. Dis Colon Rectum 2007 May; 50: 641e9. 8 Lynn PA, Olsson C, Zagorodnyuk V, Costa M, Brookes SJ. Rectal intraganglionic laminar endings are transduction sites of extrinsic mechanoreceptors in the guinea pig rectum. 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All rights reserved. http://dx.doi.org/10.1016/j.mpsur.2011.05.010 Physiology: evacuation, pelvic floor and continence mechanisms Introduction Functional anatomy Rectum Pelvic floor Anal canal and sphincters Physiology of continence Colonic motility and stool consistency Rectal sensation and compliance Local reflexes and anal sensation Internal and external anal sphincters Puborectalis and the pelvic floor Physiology of evacuation Physiological testing Anorectal manometry Sensory testing Electrophysiology Endoanal ultrasound Defaecating proctography Summary References
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