Familial intussusception

Intussusception is one of the common causes of intestinal obstruction in early childhood. Although a genetic predisposition has been suggested in some cases, its etiology is considered to be incidental, and it has not been traditionally regarded as having any genetic basis. Authors report on cases of so-called idiopathic intussusception that demonstrate a strong familial tendency.

We reviewed medical records of idiopathic intussusception reduced in our institute between 1975 and 2004. There were 564 patients. Their parents and/or grandparents were interviewed directly or by telephone about the occurrence of familial intussusception.

A family history of idiopathic intussusception, including third-degree relatives, was noted on 39 pedigrees. Occurrences between father and son were 1, mother and son 4, mother and daughter 2, mother and son and daughter 1 (sibling), siblings 10, sibling and cousin 1, uncle or aunt and nephew or niece 6, uncle and nephew and niece (cousin) 1, and cousins 13. Among 564 patients with idiopathic intussusception, 20 patients, both of 6 pairs of siblings and both of 4 pairs of cousins were treated in our institute. So in 554 pedigrees of idiopathic intussusception, the incidence of familial intussusception, including third-degree relatives, was estimated to be 7.0% or 1 in 14.2 cases.

We concluded that hereditary predisposition, such as anatomical basis, may be considered as an etiological factor in many cases of idiopathic intussusception. In these predisposed families, if they have inducements such as viral infections as the acquired agents, intussusception will occur very easily.