Proctalgia Syndromes: Update in Diagnosis and Management.

PURPOSE OF REVIEW: Functional anorectal pain syndromes are a neglected yet often disabling clinical entity resulting in significant economic and psychological burden to the patient. The aim of this review is to update the practicing gastroenterologist/coloproctologist on the diagnosis and management of these complicated disorders. RECENT FINDINGS: The updated Rome foundation diagnostic criteria (Rome IV) for functional anorectal pain subgroups chronic proctalgia (levator ani syndrome and unspecified functional anorectal pain) and acute proctalgia (proctalgia fugax) on the basis of symptom duration and digital rectal examination findings. Chronic proctalgia is thought to be secondary to paradoxical pelvic floor contraction in many patients and biofeedback to improve the defecation effort has proven effective for over 90% in the short term. Unfortunately, management of proctalgia fugax remains challenging and treatment outcomes modest at best. A number of therapies to relax the pelvic floor may be employed to improve symptoms in functional anorectal pain syndromes; however, only biofeedback to improve defaecatory dynamics in patients with levator ani syndrome has proven effectiveness in a randomized setting. Further investigation of treatment approaches in proctalgia fugax is required.

Benign Anorectal Conditions: Evaluation and Management.

Common anorectal conditions include hemorrhoids, perianal pruritus, anal fissures, functional rectal pain, perianal abscess, condyloma, rectal prolapse, and fecal incontinence. Although these are benign conditions, symptoms can be similar to those of cancer, so malignancy should be considered in the differential diagnosis. History and examination, including anoscopy, are usually sufficient for diagnosing these conditions, although additional testing is needed in some situations. The primary treatment for hemorrhoids is fiber supplementation. Patients who do not improve and those with large high-grade hemorrhoids should be referred for surgery. Acutely thrombosed external hemorrhoids should be excised. Perianal pruritus should be treated with hygienic measures, barrier emollients, and low-dose topical corticosteroids. Capsaicin cream and tacrolimus ointment are effective for recalcitrant cases. Treatment of acute anal fissures with pain and bleeding involves adequate fluid and fiber intake. Chronic anal fissures should be treated with topical nitrates or calcium channel blockers, with surgery for patients who do not respond to medical management. Patients with functional rectal pain should be treated with warm baths, fiber supplementation, and biofeedback. Patients with superficial perianal abscesses not involving the sphincter should undergo office-based drainage; patients with more extensive abscesses or possible fistulas should be referred for surgery. Condylomata can be managed with topical medicines, excision, or destruction. Patients with rectal prolapse should be referred for surgical evaluation. Biofeedback is a first-line treatment for fecal incontinence, but antidiarrheal agents are useful if diarrhea is involved, and fiber and laxatives may be used if impaction is present. Colostomy can help improve quality of life for patients with severe fecal incontinence.

Integration of Anal Dysplasia Screening into the Primary Care of Persons Living with HIV.

Anal dysplasia can lead to anal cancer, which affects persons living with HIV (PLWH) more than people in the general population. Screening for anal dysplasia is recommended to detect anal cancer at an early stage. The aim of our process improvement project was to improve compliance and consistency in implementing anal dysplasia screening for PLWH receiving care at a Ryan White facility covering 18 counties in western North Carolina. There were 291 PLWH screened for anal dysplasia during the 9-month data-gathering period. The compliance rate significantly increased from a preintervention rate of 31.3% to 57.5% (p < .001). There were 109 (37.5%) abnormal screening results. PLWH who had abnormal screening results were more likely to be White. Gender and age were not significantly associated with abnormal screening results. Anal dysplasia screening is a simple procedure to detect precursors to cancer that can be integrated into the primary care of PLWH.

Anogenital Human Papillomavirus Prevalence is Unaffected by Therapeutic Tumour Necrosis Factor-alpha Inhibition.

Patients receiving tumour necrosis factor alpha (TNF-α) inhibitors are at increased risk of exacerbation of (myco-)bacterial and some viral infections. However, information on anogenital human papillomavirus (HPV) infection in these patients is sparse or conflicting. In this study 222 patients with psoriasis or inflammatory bowel disease (IBD), who received either anti-TNF-α inhibitors or alternatives (purine-, folic acid analogues, phototherapy, fumaric ester, mesalazine) continuously for at least 6 months, were evaluated for the presence of anogenital HPV-induced lesions, mucosal HPV DNA, and serological status of mucosal low-risk HPV6 and high-risk HPV16/HPV18. Hallmarks of anogenital HPV infection were more frequently detected in patients with psoriasis than in those with IBD. HPV-induced lesions, viral DNA, and seroprevalence were not elevated in participants with psoriasis or IBD, who received TNF-α inhibitors for a mean duration of 31.4 months (range 6-96 months) compared with recipients of alternative or no treatment. TNF-α blockade for a mean period of 31.4 months does not increase detectable anogenital HPV infection or disease.

Dolor anal crónico idiopático. Evaluación de los resultados diagnóstico-terapéuticos en una unidad de referencia de coloproctología / Chronic idiopathic anal pain. Results of a diagnostic-therapeutic protocol in a colorectal referral unit

INTRODUCCIÓN: En la actualidad, el dolor anal crónico idiopático (DACI) sigue siendo un diagnóstico de exclusión, cuyo estudio y manejo permanece carente de un protocolo estandarizado. El objetivo del presente estudio es evaluar los resultados obtenidos con el protocolo diagnóstico-terapéutico establecido en nuestro servicio. MATERIAL Y MÉTODOS: Realizamos un estudio retrospectivo de los pacientes diagnosticados de DACI en la Unidad de Coloproctología del Hospital General Universitario de Elche entre 2005 y 2011. RESULTADOS: Se evaluó a 57 pacientes, remitidos con el diagnóstico de dolor anal crónico (DAC) por trastornos funcionales anorrectales (TFAR). Tras la aplicación del protocolo diagnóstico establecido, se llegó a un diagnóstico en 43 casos (75%), incluyendo 22 casos de síndrome del periné descendente, 12 de proctalgia fugax, 2 de neuritis pudenda, 7 de coccigodinia; en 14 casos se realizó un diagnóstico de exclusión de DACI.Entre las medidas terapéuticas empleadas en los pacientes con DACI, el biofeedback combinado con medidas conservadoras mejoró la sintomatología en el 43% de los casos, valorándose la neuroestimulación de raíces sacras en pacientes resistentes a otros tratamientos. CONCLUSIÓN: Mediante una protocolizada anamnesis, exploración física y con ayuda de pruebas complementarias pudo especificarse el diagnóstico de DAC por TFAR, reduciéndose el diagnóstico de exclusión de DACI al 25% de los casos. Las medidas conservadoras junto con el biofeedback consiguieron una mejoría de los síntomas en más del 40% de los casos de DACI. En el resto de pacientes debe valorarse de forma individualizada la neuroestimulación de raíces sacras

INTRODUCTION: Chronic idiopathic anal pain (CIAP) remains a diagnosis of exclusion. Its study and management still lack a standardized protocol. The aim of this study is to evaluate the results obtained with the diagnostic-therapeutic protocol established in our service. MATERIAL AND METHODS: We performed a retrospective study of patients diagnosed with CIAP at the Colorectal Unit of the General University Hospital of Elche, between 2005 and 2011.ResultsWe evaluated 57 patients with a diagnosis of chronic anal pain for functional anorectal disease (FAD). After the application of our diagnostic protocol, final diagnosis of chronic anal pain (CAP) was achieved in 43 cases (75%), including 22 cases of descending perineum syndrome, 12 of proctalgia fugax, 2 of pudendal neuritis and 7 of coccydynia. In 14 patients exclusion diagnosis of CIAP was established. Among the therapies used on patients with CIAP, biofeedback combined with conservative measures improved symptoms in 43% of the cases. Sacral nerve stimulation was assessed in patients who did not respond to other treatments. CONCLUSION: Through proper anamnesis, physical examination and complementary tests, a specific diagnosis of the cause of CAP by FAD can be achieved, reducing exclusion diagnosis of CIAP to 25% of cases. Conservative measures combined with biofeedback achieved an improvement in pain in more than 40% of the cases of CIAP in our study. Sacral nerve stimulation can be considered as a treatment option in refractory cases

An update on anorectal disorders for gastroenterologists.

Gastroenterologists frequently encounter pelvic floor disorders, which affect 10% to 15% of the population. The anorectum is a complex organ that collaborates with the pelvic floor muscles to preserve fecal continence and enable defecation. A careful clinical assessment is critical for the diagnosis and management of defecatory disorders and fecal incontinence. Newer diagnostic tools (eg, high-resolution manometry and magnetic resonance defecography) provide a refined understanding of anorectal dysfunctions and identify phenotypes in defecatory disorders and fecal incontinence. Conservative approaches, including biofeedback therapy, are the mainstay for managing these disorders; new minimally invasive approaches may benefit a subset of patients with fecal incontinence, but more controlled studies are needed. This mini-review highlights advances, current concepts, and controversies in the area.

The combination treatment using CO2 laser and photodynamic therapy for HIV seropositive men with intraanal warts.

BACKGROUND: We evaluate the effectiveness of combination treatment using photodynamic therapy after carbon dioxide laser in preventing the recurrence of condylomata acuminata for intraanal warts in HIV positive homosexual men. A retrospective survey of 41 patients referred to the STD clinic of the Fourth People's Hospital of Shenzhen for the treatment of intraanal warts among HIV positive homosexual men between Janurary 2009 and September 2011. METHODS: The patients who accepted CO2 laser monotherapy for the same diagnosis were used as the comparison group. After the confirmation of the diagnosis of HIV infection and intraanal warts, the patients were treated with the combination treatment using PDT with 5-ALA thermal gel immediately after CO2 laser ablation of the warts. PDT was performed with irradiation of 100 J/cm² at an irradiance of 100-150 mW/cm² with a semiconductor laser, wavelength 635 nm. PDT therapy was repeated twice with 2 weekly intervals. Follow up examinations including an anoscopy every 4 weeks after the latest PDT. RESULTS: After 3 cycles of PDT treatments, 39 cases of anoscopy examination showed no new or recurrent lesions. At the end of the sixth months, recurrence occurred in 12(29%) cases. HPV 11 was present in 6 (50%) of these recurrences. HPV 6/11 or 16/18 remains positive in 19 cases (46.3%) and HPV negative in 22 cases. CONCLUSIONS: The combination treatment with CO2 laser and PDT is much more effective in reducing the treatment cycles and the time intervals of the whole treatment for intraanal warts in HIV infected people.

Variants of Hirschsprung disease.

Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities are mainly based on histologic, immunohistochemical, and electron microscopy findings of biopsies from patients with functional intestinal obstruction. Intestinal neuronal dysplasia is histologically characterized by hyperganglionosis, giant ganglia, and ectopic ganglion cells. In most intestinal neuronal dysplasia cases, conservative treatments such as laxatives and enema are sufficient. Some patients may require internal sphincter myectomy. Patients with the diagnosis of isolated hypoganglionosis show decreased numbers of nerve cells, decreased plexus area, as well as increased distance between ganglia in rectal biopsies, and resection of the affected segment has been the treatment of choice. The diagnosis of internal anal sphincter achalasia is based on abnormal rectal manometry findings, whereas rectal suction biopsies display presence of ganglion cells as well as normal acetylcholinesterase activity. Internal anal sphincter achalasia is either treated by internal sphincter myectomy or botulinum toxin injection. Megacystis microcolon intestinal hypoperistalsis is a rare condition, and the most severe form of functional intestinal obstruction in the newborn. Megacystis microcolon intestinal hypoperistalsis is characterized by massive abdominal distension caused by a largely dilated nonobstructed bladder, microcolon, and decreased or absent intestinal peristalsis. Although the outcome has improved in recent years, survivors have to be either maintained by total parenteral nutrition or have undergone multivisceral transplant. This review article summarizes the current knowledge of the aforementioned entities of variant HD.

The use of digital photos and video images taken by a parent in the diagnosis of anal swelling and anal protrusions in children with normal physical examination.

PURPOSE: The purpose of this study is to demonstrate that digital photos and video images taken by a parent can provide a definite diagnosis and makes some diagnostic procedures (eg, air contrast enema, sigmoidoscopy) unnecessary for anal swelling and anal protrusions in children with normal physical examination. METHODS: In a 41-month period (September 2007-January 2011), 23 parents brought their children to the clinic, stating that they saw a swelling in the anal region and/or that something protruded from the anus while their children were defecating. If the visual inspection of the anal region and digital rectal examination of the patients were normal, parents were asked to take photos or record videos when the lesion occurred to make a diagnosis and avoid the need for air contrast enema and/or sigmoidoscopy. The parents were also asked either to send these images to the surgeon via e-mail or bring an image or the camera to the surgeon's office. The patients age, sex, symptoms, medical history, results of their first physical examination, photos and video records, and the diagnosis and treatment were recorded. All of these information were retrospectively reviewed. RESULTS: The photos provided by 20 parents and the video records from 3 parents were assessed, and the diagnoses of all patients were confirmed. Of these 23 patients, a definitive diagnosis of rectal prolapse in 8, hemorrhoids in 10, rectal polyps in 3, and sentinel skin tag in 2 was made. In addition, the photographic and video evidence gave the clinicians an idea of the degree of rectal prolapse in patients for whom this was a problem. Three patients diagnosed with a rectal polyp underwent polyp excision. One patient with rectal prolapse who was unresponsive to medical treatment underwent laparoscopic posterior rectopexy, and all other patients received medical treatment. CONCLUSION: When a swelling or protruding anal lesion in a child is discovered by parents and visual inspection of the anal region and digital rectal examination is normal, parents should be encouraged to take photos or videos of the anal region before performing air contrast enema and/or sigmoidoscopy. These photos and videos can provide a definitive diagnosis and prevent unnecessary diagnostic procedures.

Patient characteristics and treatment outcome in functional anorectal pain.

BACKGROUND: Functional anorectal pain occurs in the absence of any clinical abnormality. It is common and disabling; it has previously been reported in only a few studies involving small patient numbers. OBJECTIVE: This study aimed to report the clinical characteristics and treatment outcomes for patients with functional anorectal pain. SETTINGS AND PATIENTS: Patient demographics, clinical history, and tests results for all referrals for anorectal physiological testing between 1997 and 2009 were prospectively recorded. For patients with functional anorectal pain, further information was gained from clinical notes. MAIN OUTCOME MEASURES: Clinical history, anorectal physiology, and radiological imaging data were recorded for all patients; treatment outcome was noted for patients treated and followed up at the present unit. RESULTS: One hundred seventy patients, 99 female, with a median age of 48 years (range, 18-86), were studied. Patients were classified as having chronic proctalgia (pain duration ≥20 min, 158 patients) or proctalgia fugax (pain duration <20 min, 12 patients). The pain was most commonly located in the anal canal (90%) and aggravated by defecation or sitting (66%). A third of patients had a history of psychological disturbance. Internal anal sphincter thickness correlated with resting anal pressures. Patients with proctalgia fugax had a higher internal anal sphincter thickness and resting pressure than patients with chronic proctalgia, whereas patients with a family history of similar symptoms were more likely to have proctalgia fugax and higher resting pressures and internal anal sphincter thickness compared with those without a family history of these symptoms. Patients referred for treatment underwent a range of interventions including biofeedback (29 patients, 17 improved), tricyclic antidepressants (26 patients, 10 improved), Botox injection (9 patients, 5 improved), and sacral nerve stimulation (3 patients, 2 improved). Biofeedback had the greatest treatment effect, especially in patients with defecatory dysfunction. CONCLUSIONS: Biofeedback is beneficial in the subset of patients with functional anorectal pain and difficulty with defecation. Tricyclic antidepressants, Botox, and sacral nerve stimulation may also have a role.

[Treatment of levator ani syndrome: update and future developments]. / Terapia della sindrome dell'elevatore dell'ano.

Chronic proctalgia is defined by chronic or recurrent episodes of rectal pain or aching lasting at least 20 minutes in the absence of structural or systemic disease explanation for the pain syndrome. Digital rectal examination distinguishes between levator ani syndrome where the patient reports tenderness on palpation of the pubo-rectalis muscle and unspecified functional anorectal pain where no pain can be elicited. There is no consensus on its etiology, but chronic tension of the pelvic floor muscles is the most common view. Diagnosis is focused on excluding organic diseases potentially responsible for the pain. A number of small sized, non-controlled trials have evaluated different treatments for chronic proctalgia with frustrating results for both patients and physicians. A recent well designed, prospective, randomized, controlled trial has evaluated the three most commonly prescribed treatments to relax pelvic floor muscles in chronic proctalgia: biofeedback, electrogalvanic stimulations and digital massage of the levator ani. The study has provided unequivocal evidence that biofeedback is effective treatment for chronic proctalgia, but its efficacy is limited to levator ani syndrome. In these patients a paradoxical contraction of the pelvic floor muscles on attempted defecation has been documented in most cases and its therapeutic reversal do correlate with clinical benefit. Similar data have been also reported in constipation secondary to obstructed defecation. Electrogalvanic stimulation is somewhat effective and may be considered where high biofeedback expertise is not available. No treatment has been proven effective in unspecified functional anorectal pain where analgesic and antidepressant drugs retain a role in the absence of randomized, controlled trials.

Evaluation of the levator ani and pelvic wall muscles in levator ani syndrome.

Chronic pelvic pain is a difficult problem to evaluate and treat. Knowledge of the pelvic floor and pelvic wall muscles may enable the provider to identify levator ani spasm syndrome, a possible cause of chronic pelvic pain.

Dyssynergic defecation and biofeedback therapy.

Constipation caused by dyssynergic defecation is common and affects up to one half of patients with this disorder. It is possible to diagnose this problem through history, prospective stool diaries, and anorectal physiologic tests. Randomized controlled trials have now established that biofeedback therapy is not only efficacious but superior to other modalities and that the symptom improvement is caused by a change in underlying pathophysiology. Development of user friendly approaches to biofeedback therapy and use of home biofeedback programs will significantly enhance the adoption of this treatment by gastroenterologists and colorectal surgeons.

A proposed set of ethical practice guidelines in the assessment and treatment of pelvic floor disorders.

The treatment of pelvic floor disorders using biofeedback, behavioral therapies, and other applied psychophysiological treatments has been well documented as effective. Practitioners must take due care to ensure that they practice within the boundaries of what is common practice for their discipline and within the scope of practice allowed by their professional license as outlined by the appropriate state licensing law(s), the ethical principles and practice guidelines and standards for their discipline, and those of the Association of Applied Psychophysiology and Biofeedback if using a biofeedback assessment or treatment. Being competent to provide a particular treatment does not necessarily make it legal and/or ethical. This paper provides a set of recommended practice guidelines for use in the assessment and treatment of pelvic floor disorders. Please note that they have not at this time been endorsed as an official position of the Association of Applied Psychophysiology and Biofeedback or any other professional organization.

[Treatment of anorectal diseases]. / Therapie anorektaler Erkrankungen.

HAEMORRHOIDAL DISEASE: Stage orientated treatment of haemorrhoidal disease using conservative and operative measures provides high healing rates with low complication- and recurrence rates. ANAL FISSURE: Muscle relaxing ointments (Nitrates, Ca-channel-blocker) are the treatment of choice for chronic anal fissure. In cases of insufficiency fissurectomy provides high healing rates. ABSCESS AND ANAL FISTULA: Anal fistulae are treated with respect of their involvement of the anal sphincters. Distal fistulae are completely excised reaching high healing rates, proximal fistulae are treated using local flap procedures with healing rates reaching 50 to 80%. ANAL INCONTINENCE: Treatment of anal incontinence is depending on the severity and on the etiology of the disease. The following procedures are used: conservative: improving consistency, physical exercises, electrostimulation Biofeedback-Training surgical: Sphincterreconstruction, Pre-anal Repair, Post-anal Repair, Total Pelvic Floor Repair, Dynamic Graciloplasty, Artificial Anal Sphincter, Sacralnervestimulation, Stoma

Constipation of anorectal outlet obstruction: pathophysiology, evaluation and management.

Constipation is a subjective symptom of various pathological conditions. Incidence of constipation fluctuates from 2 to 30% in the general population. Approximately 50% of constipated patients referred to tertiary care centers have obstructed defecation constipation. Constipation of obstructed defecation may be due to mechanical causes or functional disorders of the anorectal region. Mechanical causes are related to morphological abnormalities of the anorectum (megarectum, rectal prolapse, rectocele, enterocele, neoplasms, stenosis). Functional disorders are associated with neurological disorders and dysfunction of the pelvic floor muscles or anorectal muscles (anismus, descending perineum syndrome, Hirschsprung's disease). However, this type of constipation should be differentiated by colonic slow transit constipation which, if coexists, should be managed to a second time. Assessment of patients with severe constipation includes a good history, physical examination and specialized investigations (colonic transit time, anorectal manometry, rectal balloon expulsion test, defecography, electromyography), which contribute to the diagnosis and the differential diagnosis of the cause of the obstructed defecation. Thereby, constipated patients can be given appropriate treatment for their problem, which may be conservative (bulk agents, high-fiber diet or laxatives), biofeedback training or surgery.

Rectoanal intussusception: presentation of the disorder and late results of resection rectopexy.

BACKGROUND: Rectoanal intussusception may cause symptoms of obstructed defecation, and functional results of prosthesis rectopexy are usually not satisfactory. The aim of this study was to assess several parameters of the disorder and to evaluate the outcome of resection rectopexy. METHODS: During a 10-year period, 27 female patients with symptomatic large rectoanal intussusception had resection rectopexy (23 laparoscopy; 4 laparotomy). Conservative treatment, including biofeedback treatment in 22 patients, had failed in all cases. Preoperative and postoperative evaluation included clinical assessment, anorectal manometry, evacuation defecography, and colon transit studies. Follow-up ranged between one and five years. RESULTS: Length of intussusception was 2 to 4.9 cm and was significantly related to pelvic floor descent (P = 0.003) and inversely related to resting anal pressures (P < 0.001). Eleven patients had undergone a previous hysterectomy, 9 had enterocele-sigmoidocele, 7 had incontinence of varying severity, and 8 had a solitary rectal ulcer. Colon transit was abnormal in all but five cases. Immediate functional results were bad in two-thirds of the cases; tenesmus, urge to defecate, and frequent stools were the main complaints. By the time these symptoms had subsided, and one year after surgery, all but two patients were satisfied with the outcome. Intussusception was reduced in all cases, anal sphincter tone recovered (P = 0.002), perineal descent decreased (P < 0.001), and colonic transit was accelerated (P < 0.001). Patients available at five-year follow-up had no or only minor defecatory problems. CONCLUSION: Resection rectopexy improves symptoms of obstructed defecation attributed to large rectoanal intussusception.

A second look at anorectal infections in cancer patients in a large cancer institute: the success of early intervention with antibiotics and surgery.

BACKGROUND: Infection of anorectal region represents a significant complication of anti-cancer therapy. Anorectal infection occurs in patients receiving aggressive chemotherapy. Untreated infection leads to substantial morbidity and in the past, mortality. METHODS: 82 episodes of anorectal infection in 64 patients with malignant diseases occurring over 12 years at the National Cancer Institute (NCI) were retrospectively reviewed. RESULTS: The overall incidence is comparable to the prior NCI experience despite a shift in patient population to a lower percentage of lymphoid/leukemic diagnoses (34% vs 77%). There were no deaths associated with anorectal infection in the 12 years reviewed compared to seven of 44 in the previous decade (p = 0.003). Antibiotic therapy alone was successful in managing 25/82. Only five episodes were treated with surgery alone compared to nearly 45% in the previous decade. There were no major surgical complications. Neutropenia was present in 43/82 episodes. 11 episodes were complicated by bacteremia, predominately with Staphylococcus non- aureus (n = 8). Wound cultures were performed in 36 episodes from 23 patients yielding 99 separate isolates. Gram-negative isolates were most common overall. Modification of antibiotic therapy with further anaerobic coverage was administered successfully in 39/77 episodes. CONCLUSION: This study illustrates that anorectal infections in cancer patients can be successfully managed with antibiotic therapy and local care; surgery can be withheld unless there is evidence of progressive infection or substantial fluctuance and necrosis.