Diagnosing familial hypercholesterolaemia (FH) in children

Diagnosis of heterozygous familial hypercholesterolaemia in children

“…In practice, although we have found cascade screening by genotype to provide a firmer basis for such decisions, as well as permitting future genotype:phenotype correlations. The acceptance rate by both parents and children is high and there does not appear to be a negative psychological impact associated with the knowledge of genotype (33), which also provides a valuable incentive to treatment compliance, whether dietary or by statins (4).…”

“…Children with FH already have evidence of endothelial dysfunction (2) and altered carotid artery intima-media thickness (3). Clearly identification of affected individuals in childhood would be of benefit, so that effective treatment can be commenced early (4).…”