Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Abstract

Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic. Participants were also asked if family notification was impacted by intrapersonal, interpersonal, institutional, community, and public policy factors identified previously in other populations. Notification of at least one of the proband’s living grandparents or aunts/uncles was reported by 76% (n = 25/33) and 71% (n = 24/34) of participants, respectively. The most common reason for notification was to protect relatives from heart disease. Two of the most common reasons participants did not notify relatives were a lack of information about FH and concern that the relative would have difficulty understanding the information. Yet, only a minority of participants (39%) accessed institutional resources such as educational materials to share with relatives or assistance drafting a family letter that could address these barriers. Based on the identified barriers and motivators for family communication, we suggest facilitators to improve implementation of cascade screening.