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Published on: April 26, 2019
Familial Hirschsprung's disease: a systematic review
Danielle Mc Laughlin1, Prem Puri
1National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Insights
Familial recurrence of Hirschsprung's disease (HSCR) is common, affecting 7.6% of cases. This highlights the importance of genetic counseling for families with HSCR, especially those with long-segment or total colonic disease.
Area of Science:
- Genetics
- Pediatric Surgery
- Medical Genetics
Background:
- Hirschsprung's disease (HSCR) is a complex, multi-genetic disorder with a population incidence of 1 in 5000.
- Familial recurrence rates for HSCR are higher than the general population risk, necessitating further investigation.
- Understanding familial patterns is crucial for genetic counseling of affected families.
Purpose of the Study:
- To systematically analyze the patterns of familial Hirschsprung's disease in published literature.
- To provide data to assist in the genetic counseling of families with HSCR.
- To quantify the frequency and patterns of HSCR recurrence within families.
Main Methods:
- A systematic literature search was conducted on the PubMed database.
- Studies published between 1980 and 2015 were included, focusing on "Hirschsprung's disease" and "familial" recurrence.
- Inclusion criteria required studies to report familial HSCR rates alongside total case numbers.
Main Results:
- Analysis of 4331 index cases revealed an overall familial recurrence rate of 7.6% for HSCR.
- In cases of total colonic aganglionosis, 20% were familial.
- Recurrence predominantly involved siblings (62%), followed by parent-offspring (22%) and other relatives (16%); 15% of families had multiple generations affected.
Conclusions:
- Familial recurrence of Hirschsprung's disease is frequent and warrants discussion with affected families.
- Genetic counseling is recommended for families with HSCR, particularly for long-segment and total colonic aganglionosis.
- The study underscores the genetic component of HSCR and the need for informed family planning.
Introduction:
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.
Methods:
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.
Results:
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.
Conclusion:
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.
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