Familial Hirschsprung's disease: a systematic review

Hirschsprung's disease (HSCR) is a multi-genetic disorder with complex inheritance patterns. Population risk is 1 in 5000 but is reported to be increased in families of patients with HSCR. Appropriate counseling of affected families could be assisted by data from a large volume of patients. It was the aim of this study to systematically analyse the patterns of familial HSCR in the published literature.

Pubmed (®) database was searched using the terms "Hirschsprung's disease" and "familial" for studies published between 1980 and 2015 on cohorts of index patients with HSCR reporting on familial recurrence. Studies giving rates of familial HSCR together with the total number of HSCR cases at that centre were included.

In 4331 index cases of HSCR, an overall rate of 7.6% familial recurrence was found. In total colonic aganglionosis, 20% of cases were familial. Recurrence of HSCR within families predominantly occurred in siblings (62%) and was reported between parent and offspring in 22% and in other relatives in 16%. Multiple generations were affected in 15% of families.

Familial recurrence of HSCR occurs frequently and should be discussed with families of diagnosed patients. Genetic counseling should be offered in these families and in particular for those patients with long segment and total colonic aganglionosis.