Late Diagnosis of Hirschsprung's Disease: Definition and Implication on Core Outcomes
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In brief
In brief
Retrospective study defines late diagnosis of Hirschsprung's disease as diagnosis at ≥1 year of age, affecting 18% of patients in this cohort. Late diagnosis significantly increases risk of major complications, unplanned reoperations, fecal incontinence, and permanent stoma compared to timely diagnosis.
Written by the GCMD Library team from the article.
Introduction Late diagnosis of Hirschsprung's disease (LDHD) may carry a poor prognosis. Its definition remains unclear and its implication on HD-related core outcomes has not been fully reported.
Methods A single-center 20-year series was reviewed to include HD with follow-up of 1 year or more post pull-through (PT) and aged 5 years or older. We investigated six core outcomes derived from NETS1HD study by comparing the groups dichotomized by four time points using age at diagnosis (44-week gestation, 6 months, 1 year, and 3 years). Following establishment of definition of LDHD, the outcomes and complications were compared with timely diagnosis of HD (TDHD).
Results Forty-nine out of eighty-six HD were included. The definition of LDHD was found to be HD diagnosed at 1 year of age or later because 3/6 core outcomes were significantly worse than TDHD. Nine patients (18%) had LDHD—median age at diagnosis 42 months (12–89) and PT performed at 57 months (12–103), mostly Soave (73%); a covering stoma was performed in 7/9, significantly higher than TDHD in 10/40 (p = 0.001). LDHD was associated with increased unplanned surgery (78% vs. 30%, p = 0.019), fecal incontinence (100% vs. 62%, p = 0.01), and permanent stoma (33% vs. 5%, p = 0.037). Major complications (56% vs. 20%, p = 0.043) and redo PT (33% vs. 5%, p = 0.037) were also higher in LDHD.
Conclusion LDHD could be defined as HD diagnosis at or over 1 year of age. LDHD was associated with more preoperative stoma, major postoperative complications, unplanned reoperation, and worse HD-related core outcomes.