Challenges in the evaluation for possible abuse: presentations of congenital bleeding disorders in childhood

To describe children with congenital bleeding disorders that present in a manner that may be concerning for non-accidental trauma (NAT), and to evaluate associations with disease and demographic characteristics.

Ten year retrospective chart review of subjects at a Hemophilia Treatment Center. Demographic, historical, and disease characteristics were collected. Findings were compared to a priori criteria for bleeding/bruising that is concerning for abuse.

Twenty-nine (15.3%) of the 189 children in the study had an initial presentation that was concerning for NAT. Of those 29, 75.9% were <5 years of age, 44.8% had von Willebrand disease (vWD), 51.8% had hemophilia, and 48.3% had a family history of a named bleeding disorder. Children from 9 months through 5 years of age were more likely than older children to present with findings concerning for abuse (OR 3.32, 1.21-9.10). No association was detected between presentation concerning for abuse and gender (OR 1.51, 0.6-3.77). Hemophilia was no more likely than vWD to present in a manner that was concerning for abuse (OR 0.7, 0.31-1.58). No children presented with patterned bruising.

Children with bleeding disorders may present with bruising/bleeding that is clinically highly suggestive of NAT.

Infants and young mobile children who have non-patterned bruising or bleeding as the only symptom concerning for abuse require an evaluation that includes testing for hemophilia and vWD. Children who have laboratory testing that indicates the presence of a bleeding disorder, but have clinical findings concerning for abuse, may benefit from a collaborative evaluation including a pediatric hematologist and a child abuse pediatrician.