Abstract| Volume 355, P13, August 2022

Global perspective of paediatric Familial Hypercholesterolaemia: Analysis from the EAS FHSC registry on over 11,200 children and adolescents with heterozygous Familial Hypercholesterolaemia from 44 countries

      Background and Aims : Familial Hypercholesterolaemia (FH) affects 25-35 million globally of whom 20-25% are children/adolescents. The FH Studies Collaboration (FHSC) showed that <2.5% of heterozygous FH (HeFH) adult cases were diagnosed age <18 years. Informing contemporary approaches to large-scale case finding before adulthood could be aided through evaluation of the paediatric cohort within the FHSC registry. We aimed to characterise children/adolescents with HeFH and describe how they were detected and managed globally.
      Methods: The FHSC comprises regional/national data from multiple cohorts/registries/databases of children and adults with a clinical and/or genetic diagnosis of FH. We conducted cross-sectional analyses at registry entry of <18-year-old patients with HeFH from 44 countries.
      Results: We included 11,231 children (50% girls, age at diagnosis: median 9.1 years, IQR: 5.3-13.0; 96.2% from high-income countries); 85.7% underwent genetic testing, 67.0% were non-index cases, 3.2% were identified through formal universal screening. Corneal arcus and xanthoma were present in 0.9% and 2.2% respectively, 0.3% had CAD. LDL-C levels are shown in the figure with no differences by sex; 27.9% were on lipid-lowering medications at registry entry (age ≤9: 23.0%; >9: 32.1%); overall 13.4% had an LDL-C <130mg/dL.
      Conclusions: FH detection outside high-income countries is low. Classic clinical signs are scarce suggesting diagnosis is reliant on LDL-C levels or genetic testing (if available/accessible). Identification largely occurred opportunistically or through cascade screening and these methods are likely to underserve the current and future generations of children with FH as only a fraction will be identified. These findings have implications for future public health strategies.