Mortality in Swedish patients with Hirschsprung disease

Abstract

PurposeHirschsprung disease (HSCR) has previously been associated with increased mortality. The aim of this study was to assess mortality in patients with Hirschsprung disease in a population-based cohort.MethodsThis was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was death. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and ten age- and sex-matched controls per patient, randomly selected from the Population Register. Mortality and cause of death were assessed using the Swedish National Causes of Death Register.ResultsThe cohort comprised 739 individuals with HSCR (565 male) and 7390 controls (5650 male). Median age of the cohort was 19 years (range 2–49). Twenty-two (3.0%) individuals with HSCR had died at median age 2.5 years (range 0–35) compared to 49 (0.7%) controls at median age 20 years (0–44), p < 0.001. Hazard ratio for death in HSCR patients compared to healthy controls was 4.77 (confidence interval (CI) 95% 2.87–7.91), and when adjusted for Down syndrome, the hazard ratio was 3.6 (CI 95% 2.04–6.37).ConclusionsThe mortality rate in the HSCR cohort was 3%, which was higher than in controls also when data were adjusted for Down syndrome.

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

“…Other studies (n = 46) focused on specific groups or subtypes of congenital anomalies: the central nervous system (n = 5 [44][45][46][47][48][49]), including spina bifida [44][45][46]48,49] and encephaloele [44,47]; orofacial clefts (n = 1 [16]); anomalies of the digestive system (n = 22), including oesophageal atresia [9,50,51], anorectal malformations [52], congenital diaphragmatic hernia (CDH) [18,23,51,53,54], biliary atresia [36][37][38][39][55][56][57][58][59][60][61][62][63][64], and Hirschsprung disease [24]; abdominal wall defects (n = 1 [21]); chromosomal anomalies (n = 12), including trisomy 21 [14,19,22,[65][66][67][68][69]…”

“…Other studies ( n = 46) focused on specific groups or subtypes of congenital anomalies: the central nervous system ( n = 5 [ 44 – 49 ]), including spina bifida [ 44 – 46 , 48 , 49 ] and encephaloсele [ 44 , 47 ]; orofacial clefts ( n = 1 [ 16 ]); anomalies of the digestive system ( n = 22), including oesophageal atresia [ 9 , 50 , 51 ], anorectal malformations [ 52 ], congenital diaphragmatic hernia (CDH) [ 18 , 23 , 51 , 53 , 54 ], biliary atresia [ 36 – 39 , 55 – 64 ], and Hirschsprung disease [ 24 ]; abdominal wall defects ( n = 1 [ 21 ]); chromosomal anomalies ( n = 12), including trisomy 21 [ 14 , 19 , 22 , 65 – 69 , 70 , 71 ], trisomy 13 [ 25 , 72 ], and trisomy 18 [ 25 , 72 ]; skeletal dysplasias ( n = 2 [ 13 , 20 ]); and Prader-Willi syndrome (PWS) ( n = 1 [ 73 ]). The included studies were conducted in Europe ( n = 29 [ 8 , 9 , 13 – 15 , 17 , 21 – 24 , 36 – …”

“…Major congenital anomalies in the included studies were classified according to the International Classification of Disease (ICD) revision 8 (ICD-8) [8], ICD-9 (majority of papers), ICD-10 [13][14][15], and British Paediatric Association (BPA-ICD-9) diagnosis coding [16][17][18][19][20] or surgical codes [21]. Some papers that included a long birth year period used more than one ICD version for the corresponding time periods [9,[22][23][24][25]. The included studies reported the survival estimates for all congenital anomalies combined (e.g., ICD-9 codes 740.0-759.9) and/or by congenital anomaly group (the system affected, e.g., urinary system, ICD-9 753.0-753.9) and/or subtype (the individual disorder, e.g., spina bifida, ICD-9 741).…”

“…The pooled survival estimates predicted for infants born in 2020 were 93%, 93%, 92%, and 92% at ages 5, 10, 20, and 25 years, respectively (Table 3 and Fig 3). The survival estimates for children with anorectal malformations and for those with Hirschsprung disease were reported in four [15,40,41,52] and three studies [15,24,42] with survival ranging between 86% and 97% and between 93% and 98%, respectively ( Table 2).…”

Usefulness of Delayed Films of Contrast Enema for Detecting Hirschsprung’s Disease

“…Mortality from HD has seen a reduction from 80% to 13%; this trend is likely due to and highlights the role of early diagnosis [7]. Biopsy remains the gold standard for diagnosis; however, the first investigation is usually a CE examination [8][9][10].…”