Antonio J. Vallejo-Vaz, United Kingdom

Imperial Centre for Cardiovascular Disease Prevention Primary Care and Public Health

Presenter Of 1 Presentation

Characteristics of Adults with Heterozygous Familial Hypercholesterolaemia stratified by gender: Preliminary analysis from the EAS FHSC Global Registry on over 36,000 cases of Familial Hypercholesterolaemia

Session Type
Track 4 - Prevention and Treatment of CVD
06.10.2020, Tuesday
Session Time
10:00 - 11:13
Lecture Time
10:30 - 10:40


Background and Aims

The Familial Hypercholesterolaemia (FH) Studies Collaboration (FHSC) consists of a network of investigators from 69 countries worldwide and houses the largest, only-global FH Registry. We aim to compare the characteristics of men and women with heterozygous FH (HeFH) in the FHSC Registry.


FHSC comprises regional/national data from multiple cohorts/registries/databases of individuals 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 compare the baseline characteristics of adults (age ≥18 years) with HeFH stratified by gender.


We included 16,890 (45.8%) men and 19,945 (54.2%) women with HeFH. Proportion of women in the registry was similar across the different WHO world regions, except for the Eastern Mediterranean region, where men accounted for 55.1% of cases. Mean (SD) age at registry entry was 45.2±14.9 and 48.1±16.4 years in men and women, respectively (p<0.0001). 61% men and 58% women were receiving lipid-lowering medication (LLM). Median (IQR) LDL-C (mg/dL) among individuals not taking LLM were: men 206.9 (163.0-255.7), women 213.0 (170.2-264.6), p<0.0003; among those receiving LLM: men 161.6 (122.2-213.0), women 164.7 (125.3-222.4), p<0.0001.


Overall, FH patients are identified late, with women being identified slightly later and presenting slightly higher LDL-C than men. LDL-C remains well above the recommended levels despite LLM at the time of registry entry in both genders. Greater attention is needed on early identification, and intensification of therapy to achieve recommended LDL-levels.