Epidemiology of Hirschsprung disease in California from 1995 to 2013

This study seeks to update current epidemiology of Hirschsprung disease (HD) in California.

Using data from the California Office of Statewide Health Planning and Development Linked Birth (1995-2012) and Patient Discharge Databases (1995-2013), patients from either dataset with an ICD-9 diagnosis code of HD (751.3) or procedure code of Soave (48.41), Duhamel (48.65), or Swenson/other pull-through (48.49) were included. Patients > age 18 during their first admission were excluded.

Of 9.3 million births, 2,464 patients were identified. Incidence was 2.2 cases/10,000 live births, with rates peaking at 2.9/10,000 births in 2002. Incidence was highest among African American (4.1/10,000) and Asian/Pacific Islander (2.5/10,000) births. Most were male (n = 1652, 67.1%). Sixty patients (2.4%) had Down syndrome. The median gestational age at birth was 38 weeks 6 days (interquartile range [IQR] 37 weeks 1 day-40 weeks 1 day). Mortality during the first year of life was 1.7%. Median age at death was 14.5 days (IQR 0-113 days).

This is one of the largest population-based studies of HD. In California, the incidence of HD is stable, risk is highest among African American children, and the mortality rate is < 2%.