Abstract
IntroductionFamilial occurrence of Hirschsprung's disease may have a positive effect on patients' ability to cope with the disease. The aim was to compare long-term bowel function and generic quality of life between patients with familial and non-familial Hirschsprung's disease.MethodsThis was a nationwide, cross-sectional study in which we included all 830 Hirschsprung patients of 8 years and older who had undergone surgery between 1957 and 2015. We excluded patients with a permanent stoma, intellectual disability, or an unknown or foreign address. We requested patients to complete the validated pediatric or adult Defecation and Fecal Continence questionnaire and the Child Health Questionnaire Child Form-87, or the World Health Organization Quality of Life-100 Assessment Instrument.ResultsWe analyzed 336 Hirschsprung patients, 15.8% of whom were familial cases and 84.2% were non-familial cases. After adjusting for aganglionic length, sex, and age, patients with familial Hirschsprung's disease were twice more likely to suffer from constipation (OR = 2.47, 95% CI, 1.21–5.05, p = 0.013). The quality of life of the pediatric patients was comparable, but in adult patients the energy/fatigue, thinking/learning/concentration, and work capacity facets showed better scores in the familial patients with Hirschsprung's disease of the rectosigmoid (p = 0.029, p = 0.024, p = 0.036, respectively).ConclusionsDifferent facets of generic quality of life are better in adult patients with familial Hirschsprung's disease of the rectosigmoid. It seems that familial experience with the disease influences patients' coping abilities positively.
Highlights
Familial occurrence of Hirschsprung’s disease may have a positive effect on patients’ ability to cope with the disease
Since modern surgery has led to substantial improvement in the survival of Hirschsprung patients, the responsibilities of pediatric physicians and surgeons regarding postoperative function and quality of life has increased [5]
One can imagine that it might be easier to talk about bowel function problems, like constipation and fecal incontinence, with relatives who suffer from Hirschsprung’s disease themselves
Summary
Familial occurrence of Hirschsprung’s disease may have a positive effect on patients’ ability to cope with the disease. The aim was to compare long-term bowel function and generic quality of life between patients with familial and non-familial Hirschsprung’s disease. It is known that familial Hirschsprung’s disease is associated with longer lengths of the aganglionic segment [2–4]. We still know little about the differences in bowel function between patients with and without familial Hirschsprung’s disease, except for rare reports on progressive disease in siblings [4]. One can imagine that it might be easier to talk about bowel function problems, like constipation and fecal incontinence, with relatives who suffer from Hirschsprung’s disease themselves. One may expect that familial occurrence of Hirschsprung’s disease may improve patients’ ability to cope
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