Hereditary internal anal sphincter myopathy causing proctalgia fugax and constipation

König, P; Ambrose, N. S.; Scott, Nigel

doi:10.1097/00042737-200012010-00023

Cited by 16 publications

(9 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our patient did not respond to conservative or medical therapy with calcium antagonists but experienced full resolution of her symptoms with lateral internal anal sphincterotomy. Our experience is in agreement with the experience of other groups [ 3 , 6 , 7 , 9 – 11 ] that internal anal sphincterotomy is the treatment of choice, whereas we also report an attempt to achieve symptom relief with Botox injections that was not successful.…”

Section: Discussionsupporting

confidence: 91%

Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report

et al. 2018

View full text Add to dashboard Cite

BackgroundHereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation. Treatment options are explored.Case presentationA 61 year-old Caucasian woman presented with an 18-year history of severe anal pain and constipation. She had no response to medical treatment which included amitriptyline and topically administered diltiazem. Endoscopy revealed no abnormalities, whereas endoanal ultrasound showed an abnormally thick internal anal sphincter (> 5 mm) and anal manometry showed intermittent episodes of very high resting pressures in excess of 200 mmHg that resolved spontaneously after 2 minutes. She had no relief of her symptoms after receiving an injection of botulinum toxin to the internal anal sphincter. She subsequently underwent a lateral internal anal sphincterotomy which led to complete resolution of her symptoms.ConclusionsHereditary polyglucosan inclusion body myopathy of the internal anal sphincter should be considered in the differential diagnosis of a patient presenting with severe anal pain and constipation in the absence of an anal fissure or sepsis. If medical therapy with calcium antagonists fails to provide symptom relief, lateral internal sphincterotomy should be considered rather than botulinum toxin injection.

show abstract

Section: Discussionsupporting

confidence: 91%

Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report

et al. 2018

View full text Add to dashboard Cite

show abstract

“…We have described another family with hereditary IAS myopathy, representing the fifth such family [2,[7][8][9][10] and the first from the Caribbean. This is a local myopathy confined to the IAS and, in this regard, it mirrors other localized myopathic disorders which occur in the skeletal muscle as opposed to the smooth muscle, such as limb girdle or ocular myopathies.…”

Section: Discussionmentioning

confidence: 99%

Hereditary internal anal sphincter myopathy: the first Caribbean family

Zbar¹,

Portilla

Martín

et al. 2007

Tech Coloproctol

View full text Add to dashboard Cite

Hereditary proctalgia is an extremely rare condition characterized by endosonographic evidence of internal anal sphincter (IAS) thickening and specific ultrastructural changes seen at light and electron microscopy (EM). We report the case of a 54-year-old Caribbean woman with severe proctalgia and IAS thickening, treated with IAS myectomy. Transmission EM showed PAS-positive inclusions and granulofibrillary smooth muscle inclusion bodies. Anal endosonography of 5 family members from 3 generations showed IAS thickening in all cases with reported proctalgia. The condition represents an isolated IAS myopathy which is a probable polysaccharide storage disease variant. This condition may require specific surgical therapy with specimen preservation and ultrastructural examination for optimal characterization and treatment.

show abstract

“…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.

View full text Add to dashboard Cite

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.

show abstract

Hereditary internal anal sphincter myopathy causing proctalgia fugax and constipation

Cited by 16 publications

References 0 publications

Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report

Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report

Hereditary internal anal sphincter myopathy: the first Caribbean family

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

Contact Info

Product

Resources

About