[Evaluation of knowledge and practices regarding heterozygous familial hypercholesterolemia in children]

Dominant heterozygous familial hypercholesterolemia (FH) is frequent (prevalence, 1/500 to 1/250) and leads to severe and premature cardiovascular complications. It is easily detected, and its treatment is effective. However, recommendations for screening are not followed worldwide.

The aim of this study was to evaluate the knowledge and practices of doctors in the Isère department, France, regarding screening and treatment of FH in children.

A questionnaire was distributed by email or during training sessions to general practitioners, doctors working in Infant and Mother Protection (IMP) services, and pediatricians in private practice in Isère.

Fifty-nine doctors completed the questionnaire (overall response rate, 61%). Respondents were general practitioners (36%), IMP doctors (36%), and pediatricians in private practice (28%). Generalized screening for all children was done by only 8% of the respondents, while cascade screening, in case of familial cardiovascular medical history, was done by only 36%, of which 5% were general practitioners while 53% were doctors with a clinical practice focused on children. The most recent French recommendations by the Société française de pédiatrie and the Nouvelle Société française d'athérosclérose, which were published in 2010, had been read by only nine doctors (15%). Having read them led to a better policy of generalized screening, either generalized to all children (OR=12.0 [2.3-64.0], P=0.004) or in cascade (OR=22.8 [4.2-123.2], P<0.001).

The number of questionnaires collected was small, with possible selection and declaration bias, but the different types of pediatric practice were equally represented.

Screening of FH in children is not very well organized and recommendations are not followed by doctors in Isère, France. Children with FH are probably underdiagnosed and undertreated.