Hirschsprung’s disease
BMJ 2012; 345 doi: https://doi.org/10.1136/bmj.e5521 (Published 01 October 2012) Cite this as: BMJ 2012;345:e5521
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We would like to congratulate the authors on highlighting the possibility of late presenting Hirschsprung’s disease in children, which although it is rare can result in significant morbidity for the child. However, the authors statement that most patients with Hirschsprung’s disease have ‘near normal anorectal function after surgery’ is unfortunately misleading.
A recent Finnish population-based cross sectional study of adults with Hirschsprung’s disease found that only 47% of adults had a normal bowel function score(1), a result that is consistent with English studies using the same scoring system(2) . Furthermore, up to 48% of adults report occasional soiling with 14% experiencing potentially socially disabling faecal incontinence(1).
Although the majority of patients with Hirschsprung’s disease learn to actively manage their bowels and report adequate quality of life scores, this is a disease that has life-long implications both medically and socially of which medical professionals need to be aware.
References:
1. Jarvi K, Laitakari EM, Koivusalo A, Rintala RJ, Pakarinen MP. Bowel Function and Gastrointestinal Quality of Life Among Adults Operated for Hirschsprung Disease During Childhood A Population-Based Study. Annals of Surgery 2010;252(6):977-81.
2. Conway SJ, Craigie RJ, Cooper LH, Turner K, Turnock RR, Lamont GL, et al. Early adult outcome of the Duhamel procedure for left-sided Hirschsprung disease--a prospective serial assessment study. J Pediatr Surg 2007;42(8):1429-32.
Competing interests: No competing interests
Re: Hirschsprung’s disease
Thank you very much to Arshad et al. for their review of Hirschsprung disease, including the comment that a number of patients will have a family history. It is worth pointing out that many patients will have an identifiable genetic cause.
For example, RET mutations may account for up to 41% of non-syndromic Hirschsprung disease, and half of all familial disease. There are further monogenic causes for both non-syndromic and syndromic Hirschsprung disease. Syndromic causes include NF1 (neurofibromatosis type 1), SLO (Smith-Lemli-Opitz), plus MEN2 (multiple endocrine neoplasia type 2) due to RET mutations, and around 12% will have a chromosomal cause. These include Down syndrome but also a number of small chromosome deletions. It may be very helpful both for the family and their clinicians to know who or whose children are at risk of Hirschsprung disease. Your local regional genetics service would be very happy to discuss appropriate investigations.
Yours sincerely.
Ref. Parisi MA. Hirschsprung Disease Overview. 2002 Jul 12 [Updated 2011 Nov 10]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1439/. Accessed 27/11/12.
Competing interests: No competing interests