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

Abstract

The age of HeFH diagnosis varies significantly between 8 European countries. • The proportion of HeFH children being treated varies across 8 European countries. • A quarter of FH children on statins have LDL-C above the target (> 3.5 mmol/L). • Many FH children are not getting the full benefit of early diagnosis and treatment.

Genetic testing is essential for initiating statin therapy in children with familial hypercholesterolemia: Examples from Scandinavia

“…The overall increase in statin use in all three countries among children aged 10-14 years is therefore reassuring, whereas the lack of increase in statin use among children aged 15-19 years in Denmark should be further investigated. We did not observe differences in statin use between sexes in any of the countries, which is in line with data from the UK Paediatric FH register [10], whereas other countries have found slightly higher on-treatment rates in boys [11]. Although there may be reasons for not treating some children with FH [1,12], the treatment rates in our study are too low, particularly in Sweden and Denmark.…”

“…Based on aggregate data from Norway, we observed a strong correspondence between the number of statin users and the number of individuals with genetically verified FH between 2008 and 2018. This could indicate that to increase treatment rates, more children need to be genetically diagnosed with FH, as supported by Leren et al [13] and an European study where countries with the highest percentage of children identified with an FH mutation also had the highest percentage on statin treatment (such as Greece and The Netherlands) [11]. However, we cannot claim any causal relation in this study, and studies of data at an individual level are warranted to adequately address the association between statin use and genetically verified FH.…”

“…Although there may be reasons for not treating some children with FH [1,12], the treatment rates in our study are too low, particularly in Sweden and Denmark. Data from eight European countries show that many children with FH do not receive recei appropriate lipid-lowering treatment [11]. In 2018, statin use was 4-5 times higher in children aged 10-14 years and 3 times higher in children aged 15-19 years in Norway than in children from Sweden and Denmark.…”

“…Since our aggregate data were based on the number of unique users in the two ATC groups C10AA and C10BA, there is a possibility that one individual could have been counted twice if they switched from one ATC group to another during the same year, leading to overestimation of the number of users. However, the relevance of this limitation is limited due to the small number of users in the ATC group C10BA (statins + ezetimibe) in all three countries, as supported by others [11].…”

Use of statins in children with familial hypercholesterolemia

“…В 2019 г. опубликованы результаты исследования, проведенного в 8 европейских странах (Норвегия, Великобритания, Чехия, Португалия, Греция, Австрия, Нидерланды, Бельгия), посвященного сравнению тактики и результатов лечения семейной гиперхолестеринемии в общей выборке из 3064 детей. Показано, что доля детей, принимающих статины, увеличивается с возрастом и к 15-летнему возрасту уже 79% пациентов в этих странах принимают статины [39]. Цели для детей старше 10 лет состоят в достижении уровня ЛПНП <3,5 ммоль/л (<135 мг/дл), в младшем возрасте -снижении этого показателя на ≥50%.…”