Hereditary internal anal sphincter myopathy causing proctalgia fugax and constipation

Kamm, Michael A.; Hoyle, Charles H.V.; Burleigh, David; Law, Penelope; Swash, Michael; Martin, Joanne E.; Nicholls, R. J.; Northover, John

doi:10.1016/0016-5085(91)80030-d

Cited by 122 publications

(55 citation statements)

References 14 publications

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“…Several cases of hereditary hypertrophy of the IAS have already been described, showing ERUS as the most sensitive and specific technique (23)(24)(25)(26)(27)(28). It is an infrequent entity but medical or surgical treatment improves most cases.…”

Section: Discussionmentioning

confidence: 99%

Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

García-Montes

Argüelles-Arias

Jiménez-Contreras

et al. 2010

Rev. esp. enferm. dig.

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Objective: to assess the efficiency of endorectal ultrasound (ERUS) in the study of chronic idiopathic anal pain (CIAP).Material and method: this is a prospective and descriptive study in which 40 patients, 18 men and 22 women with an average of 47 years, were included. They had chronic anal pain of at least 3 months' duration. A complete colonoscopy was performed in all patients, which found no abnormalities to explain clinical symptoms. Patients with anal fissure and internal hemorrhoids of any degree, perianal suppurative processes, and pelvic surgery were excluded from the study. An ALOKA ProSound SSD-4000 ultrasound console attached to a multifrequency radial transductor ASU-67 (7.5 and 10 MHz) was used.Results: one patient could not tolerate the examination. In 8 patients (20% of cases) alterations were detected during ultrasonography: in 4 patients (10% of the cases; 1 man and 3 women) internal anal sphincter (IAS) hypertrophy, and in 5 patients (4 women and 1 man) a torn sphincter complex. A tear in the upper IAS canal and hypertrophy of the middle anal canal were observed in one patient (1 woman).Conclusions: ERUS is a simple, economic and useful test to study anorectal pathologies. Although in most studied cases no damage to the anal canal or rectal wall was detected, in a considerable number of patients we observed a thickening of the IAS, a probable cause of anal pain. Therefore, we understand that ERUS should be included in the study of CIAP.

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Section: Discussionmentioning

confidence: 99%

Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

García-Montes

Argüelles-Arias

Jiménez-Contreras

et al. 2010

Rev. esp. enferm. dig.

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“…The exception is the patient with recent-onset pain or features of typical but severe proctalgia fugax. In the latter a myopathy of the internal anal sphincter may be present [26, 27]. Rarely an anal tumour or other pathology is detected.…”

Section: Discussionmentioning

confidence: 99%

Prospective Assessment of the Clinical Value of Anorectal Investigations

Vaizey

Kamm

2000

Digestion

Self Cite

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Background/Aim: Anorectal physiological testing and imaging have become part of routine colorectal and gastro-enterological practice, but their clinical value is controversial. We prospectively evaluated the new diagnostic information, impact on management and prognostic information provided by anorectal testing. Methods: One hundred consecutive patients referred for testing were studied. The referring doctor’s diagnosis, reason for referral, planned management and expectation of the value of investigations were recorded. Incontinent patients underwent anorectal physiological testing and endo-anal ultrasound. Patients with constipation underwent anorectal physiological testing and a study of whole-gut transit time to distinguish between slow and normal transit. Constipated patients over age 45, or those younger patients who digitated to assist defaecation, also underwent evacuation proctography to identify large rectoceles. Results: Fifty-one patients had faecal incontinence. Of 12 patients with suspected anterior external anal sphincter obstetric damage, all of whom were planned for surgical repair, 3 were unsuitable for repair, 3 had a normal sphincter, 2 had a weak but structurally intact sphincter, and 1 had internal anal sphincter damage only. Of 6 patients with failed anterior repair, 3 had a defect suitable for repeat repair, 2 had intact repairs and good function, and 1 had extensive damage requiring reconstructive surgery. The tests also influenced management for incontinent patients after haemorrhoidectomy surgery (n = 5), after fistula surgery (n = 5), with congenital abnormalities (n = 3), after cerebrovascular accident (n = 1) and those with no presumptive diagnosis (n = 15). Of the 20 patients referred with constipation, demonstration of a recto-anal reflex in 1 patient with a megarectum excluded the need for full-thickness biopsy. A further patient with altered electrosensation went on to have a neurological lesion defined. Definition of slow transit in some patients did not immediately affect management. New information or a change in management was provided in patients referred for pre-operative assessment (n = 13). Information was gained in only 1 of 7 patients with solitary rectal ulcer and in none of the 8 patients with anal pain. Conclusion: Anorectal assessment provides important diagnostic and prognostic information and directly alters management in patients with benign anorectal disorders.

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“…As alterações musculares se expressam aos exames tonográfico, ulrassonográfico e histológico 35 . Trata-se de condição hereditária rara que se associa à PF e à constipação intestinal [36][37][38][39][40][41][42] . Embora a miopatia seja aspecto etiológico raro, transmitido geneticamente por gene autossômico dominante, deve ser considerado no conjunto da pouca conhecida etiologia daquela doença.…”

Section: Proctalgia Fugaz E Síndrome Do Elevadorunclassified

Dor posterior baixa e dor pélvica: o que interessa ao proctologista?

Santos¹

2009

Rev bras. colo-proctol.

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RESUMO: Um do mais intrigante e frequente sintoma de doenças agudas ou crônicas é a dor, sobretudo quando aparece sem um substrato anatomo-patológico facilmente identificável, o que dificulta o tratamento e favorece sua persistência. A dor crônica, generalizada ou localizada, transtorna a vida da pessoa, cuja qualidade é significativamente afetada na proporção da intensidade e continuidade da dor. A dor pélvica e a dor posterior baixa são sintomas relativamente comuns, principalmente por estarem relacionados etiologicamente com mais de uma centena de doenças -desde as que são de origem infecciosa até as inflamatórias inespecíficas, passando pelas que são decorrentes de alterações osteomusculares carências ou funcionais, até às neoplásicas e às de causas indeterminadas. Além disso, há fatores estruturais sobrecarregados pelos atuais estilos de vida, não só em relação à postura física, como permanecer sentado por longo período de tempo, mas também por falta de exercícios que deveriam ser praticados como preparo para o cotidiano. Soma-se, ainda, a estimativa de que 60% das pessoas estão na faixa do sobrepeso e 25% são obesas. Pela frequência de aparecimento e por sua relação com os órgãos pélvicos, a dor pélvica e a dor posterior baixa, cuja investigação pode envolver profissionais de várias áreas, devem ser do obrigatório interesse do médico coloproctologista. Recebido em 14/09/2009 Aceito para publicação em 30/09/2009A dor pélvica e a dor posterior baixa são sintomas relativamente comuns, principalmente por estarem relacionados etiologicamente com mais de uma centena de doenças -desde daquelas que são de origem infecciosa até as inflamatórias inespecíficas, passando pelas que são decorrentes de alterações osteomusculares carências, funcionais, pelas neoplásicas e pelas de causas indeterminadas.Na área da Coloproctologia, as causas mais comuns de dor, na região pélvica, são facilmente identificáveis, pois a maior parte delas tem origem nas afecções anorretais de caráter inflamatório, infeccioso ou neoplásico ou nas estruturas adjacentes, urogenitais internas ou externas.Assim, vamos abordar as dores decorrentes de desordens de estruturas neuromusculares e que, muitas vezes mal investigadas, não têm seus pontos de origens ou causas identificados e, portanto, deixam de ser classificadas, não têm a etiologia determinada e não são corretamente tratadas.A importância do fato é que essa doença complexa e comum, de etiologia frequentemente considerada inexplicável, tanto nos homens 1-3 como nas mulheres 1,4,5 projeta alto nível de ansiedade e depressão com os consequentes danos para a saúde e piora na qualidade de vida dos pacientes, não só pelas sensações subjetivas como por causa das perturbações funcionais decorrentes 6-10 . Essas dores, mesmo quando intimamente relacionadas com doenças proctológicas, podem confundir o médico por se associarem a outros sintomas tais como: constipação intestinal, obstrução retal, diminuição do jato urinário, dor a ejaculação, dor posterior baixa, dispareunia superficial e profunda, pr...

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Hereditary internal anal sphincter myopathy causing proctalgia fugax and constipation

Cited by 122 publications

References 14 publications

Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

Prospective Assessment of the Clinical Value of Anorectal Investigations

Dor posterior baixa e dor pélvica: o que interessa ao proctologista?

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