218 - Heterozygous Familial Hypercholesterolaemia in Children: Preliminary analysis from the EAS FHSC Global Registry on over 7,900 children with Familial Hypercholesterolaemia (ID 976)
- Kanika Dharmayat, United Kingdom
- Christophe Stevens, United Kingdom
- Alexander Lyons, United Kingdom
- Alberico Luigi Catapano, Italy
- Tomas Freiberger, Czech Republic
- Kees Hovingh, Netherlands
- John J. Kastelein, Netherlands
- Pedro Mata, Spain
- Frederick J. Raal, South Africa
- Raul D. Santos, Brazil
- Handrean Soran, United Kingdom
- Gerald F. Watts, Australia
- Kausik K. Ray, United Kingdom
- Antonio J. Vallejo-Vaz, United Kingdom
- X On behalf of the FHSC, United Kingdom
Abstract
Background and Aims
Approximately 25-35 million people have heterozygous Familial Hypercholesterolaemia (FH) globally, of whom 20-25% are children and adolescents. The FH Studies Collaboration (FHSC) consists of investigators from 69 countries and houses the largest global FH Registry, including >61,000 cases, of whom >7,900 are children. We assessed the characteristics and management of children with FH in the FHSC.
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. After ensuring data quality, we used smart, bespoke IT routines for automated data cleaning, to allow harmonisation into a merged dataset for analyses. We conducted cross-sectional analyses at registry entry to characterise the population and assess how children with FH are managed overall and by region.
Results
We included 7,933 children with FH (50% males, age-at-diagnosis 10.1±4.8). By age groups, 18.5%, 41.7% and 39.8% were 0-5, 6-12, and 13-18 years old, respectively. Genetic testing was conducted in >88% of cases, with LDL-Receptor mutations accounting for >85% of cases. 91% of children in the cohort were from the WHO European region.
Conclusions
There is little global data on FH in children outside of Europe. Despite statin therapy, LDL-cholesterol levels remain high. Much more needs to be done to improve FH detection in children globally and achieve better LDL control.