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Anorectal Malformations Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1065 Anorectal Malformations Long-term outcome and aspects of secondary treatment JOHAN DANIELSON ACTA UNIVERSITATIS UPSALIENSIS ISSN 1651-6206 ISBN 978-91-554-9140-6 UPPSALA urn:nbn:se:uu:diva-241243 2015 Dissertation presented at Uppsala University to be publicly examined in Rosénsalen, Entrance 95/96, ground floor, Uppsala University Children’s Hospital, Uppsala, Friday, 27 February 2015 at 13:15 for the degree of Doctor of Philosophy (Faculty of Medicine). The examination will be conducted in English. Faculty examiner: Adjungerad Professor Olof Hallböök (Linköpings universitet ). Abstract Danielson, J. 2015. Anorectal Malformations. Long-term outcome and aspects of secondary treatment. Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1065. 109 pp. Uppsala: Acta Universitatis Upsaliensis. ISBN 978-91-554-9140-6. Faecal incontinence (FI) is defined as the inability to control bowel movements. The causes of FI are many and diverse. One of the more uncommon reasons for FI is Anorectal Malformations (ARMs). An ARM is a congenital anomaly that affects somewhere between 1/2500 and 1/5000 live born babies. Many ARM patients have persistent FI. Several different procedures have been utilised to address this issue. This thesis aims to evaluate (1) the long-term outcome in adulthood of ARMs in relation to the modern Krickenbeck classification, and (2) scope for treating FI with transanal injection with dextranomer in non-animal stabilised hyaluronic acid (NASHA/Dx), in patients both with and without ARMs. All patients treated for ARMs in Uppsala up to 1993 were invited to participate in a questionnaire study of quality of life and function. The study included 136 patients and compared them with 136 age- and sex-matched controls. The Krickenbeck classification was found to predict functional outcome, and ARM patients had more problems with incontinence and obstipation, as well as inferior Quality of Life (QoL), compared with controls. Thirty-six patients with FI, owing to causes other than ARMs, were treated with transanal submucous injection of NASHA/Dx. The patients were monitored for two years after treatment. Significant reductions in both their incontinence score and the number of their incontinence episodes were achieved. A significant improvement in QoL was observed in patients who had at least a 75% reduction in incontinence episodes. No serious complications occurred. A prospective study of transanal injection of NASHA/Dx was conducted on seven patients with persistent FI after ARMs. After six months a significant reduction in the number of incontinence episodes was obtained. A significant improvement in QoL was also found. No serious complications occurred. In conclusion, adult patients with ARMs have inferior outcome of anorectal function and QoL compared with controls. NASHA/Dx is effective and appears to be safe in treating FI in general. This effect seems to be the same in selected patients with persistent FI after ARMs. Keywords: anorectal malformation, faecal incontinence, long-term outcome, Krickenbeck, NASHA/Dx Johan Danielson, Department of Surgical Sciences, Akademiska sjukhuset, Uppsala University, SE-75185 Uppsala, Sweden. © Johan Danielson 2015 ISSN 1651-6206 ISBN 978-91-554-9140-6 urn:nbn:se:uu:diva-241243 (http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-241243) What we do in infancy echoes in eternity Author’s personal proverb List of Papers This thesis is based on the following papers, which are referred to in the text by their Roman numerals. I Outcome in adults with anorectal malformations in relation to modern classification: Which patients do we need to follow closely beyond childhood? Danielson J, Karlbom U, Graf W, Wester T Submitted II Submucosal injection of stabilised nonanimal hyaluronic acid with dextranomer: A new treatment option for faecal incontinence. Danielson J, Karlbom U, Sonesson AC, Wester T, Graf W. Dis Colon Rectum 2009 Jun;52(6):1101-1106 III Efficacy and quality of life 2 years after treatment for faecal incontinence with injectable bulking agents. Danielson J, Karlbom U, Wester T, Graf W. Tech Coloproctol. 2013 Aug;17(4):389-395 IV Injectable bulking treatment of persistent faecal incontinence after anorectal malformations. A preliminary report. Danielson J, Karlbom U, Wester T, Graf W. Manuscript Reprints were made with permission from the respective publishers. Contents Introduction ................................................................................................... 11 Anatomy of the rectum and surrounding structures ................................. 11 The anal canal ...................................................................................... 11 The external anal sphincter (EAS) ....................................................... 12 The internal anal sphincter (IAS) ........................................................ 12 The rectum ........................................................................................... 12 The levator ani ..................................................................................... 12 Physiology of the colon, rectum and anal canal ....................................... 12 The colon ............................................................................................. 13 The rectum ........................................................................................... 13 The anal canal and surrounding muscles ............................................. 13 Faecal incontinence .................................................................................. 14 Incidence and aetiology of FI .............................................................. 14 Treatment of FI .................................................................................... 15 Anorectal malformations .......................................................................... 18 History of ARMs ................................................................................. 18 Incidence of ARMs .............................................................................. 19 Associated anomalies ........................................................................... 19 Genesis of ARM .................................................................................. 20 Classification of ARMs ....................................................................... 20 Classification used in this thesis .......................................................... 22 Primary surgical treatment of ARM ......................................................... 25 Low anomalies ..................................................................................... 25 High and intermediate anomalies ........................................................ 25 Outcome of ARM treatment ..................................................................... 25 Mortality .............................................................................................. 25 Short-term outcome of low anomalies ................................................. 26 Long-term outcome of low anomalies ................................................. 26 Short-term outcome of high and intermediate anomalies .................... 26 Long-term outcome of high and intermediate anomalies .................... 27 Conservative treatment of problems after ARM ...................................... 27 Secondary surgical treatment of persistent faecal incontinence after surgery ...................................................................................................... 28 Measuring and evaluating anorectal function .......................................... 29 Evaluation of the anatomy of the anorectal area .................................. 29 Evaluation of the physiology of the anorectum ................................... 30 Evaluation of faecal incontinence ........................................................ 30 Quality of Life ..................................................................................... 31 Background to the current thesis .............................................................. 31 Aims of the thesis.......................................................................................... 32 Materials and methods .................................................................................. 33 Basic methodology ................................................................................... 33 Paper I .................................................................................................. 33 Papers II and III ................................................................................... 33 Paper IV ............................................................................................... 33 Patients & controls ................................................................................... 34 Paper I .................................................................................................. 34 Papers II–III ......................................................................................... 36 Paper IV ............................................................................................... 37 Questionnaires utilised in the studies ....................................................... 38 Diary of bowel habits and incontinence episodes ................................ 38 Validated bowel-function questionnaire .............................................
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