Some children with a familial hypercholesterolemia mutation may exhibit persistent low LDL levels

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

“…Overall, 88% carried an FH-causing mutation, suggesting that the majority of these children are on their country FH register because of being identified through cascade testing from a mutation positive relative. Few data exits on the future lipidtrajectory in children with a pathogenic FH mutation, but one report [33] showed that 11 of 25 children with an FH mutation and LDL-C below 3.5 mmol/L developed hypercholesterolemia during 3.8 years of follow up. It is possible that children with low LDL-C in our study may have inherited a "milder" mutation, and a detailed analysis of the genotype-phenotype relationships is in preparation.…”

Pilot study of universal screening of children and child‐parent cascade testing for familial hypercholesterolaemia in Australia

“…Given that 30% of the children with an FH mutation had LDL‐cholesterol below the 95th percentile in the Wald et al 17 . study, we acknowledge that in the present study we may have missed these children who are still at high risk of developing hypercholesterolemia later in life 27,28 …”

“…26 Given that 30% of the children with an FH mutation had LDLcholesterol below the 95th percentile in the Wald et al 17 study, we acknowledge that in the present study we may have missed these children who are still at high risk of developing hypercholesterolemia later in life. 27,28 Elevated lipoprotein(a) is a common, dominantly inherited trait that potently enhances the risk of CAD in FH. Screening for elevated lipoprotein(a) may be an additional strategy that could be used to identify those at greatest risk of premature CAD.…”