Report || EAS FH Studies Collaboration and more

Watch the session – available on demand

Underdiagnosed and undertreated – that was the take home message from data in over 36,000 adults in the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), a unique global registry (1). The findings were reported at the session – Lipid lowering therapies from childhood to old age.

The EAS FHSC was set up in 2015 to collect information from around the world about FH subjects (2).  This registry now includes over 62,500 people from 63 different countries, across all continents. This latest analysis investigated possible gender differences in the baseline characteristics and management of 36,835 adults with FH, 16,890 men and 19,945 (54%) women. The majority (79%) of these patients were diagnosed using the Dutch Lipid Clinic Network criteria (54%), with only 10% diagnosed by genotyping alone.

Most adults with FH were enrolled in the registry in their forties, at a mean age of 45.2 years in men, slightly higher in women (48.1 years), on average 2 years after their FH diagnosis (mean age 43.5 years and 46.0 years, respectively). Overall, women tended to be less well managed than men; they were less likely to be on lipid lowering therapy (58% versus 61%), especially combination therapy (20% versus 23%), and less frequently attained LDL cholesterol goals recommended by the 2019 ESC/EAS lipid guidelines (3). Only 1.6% of men and 0.8% of women had an LDL cholesterol <1.4 mmol/L (<55 mg/dL), and only 3.5% and 2.5%, respectively, achieved a value <1.8 mmol/L (70 mg/dL).

Coronary artery disease was more prevalent in men than women (21% versus 12%), although there were no differences in the prevalence of stroke or peripheral artery disease.

These preliminary data highlight the need for further efforts to identify people with FH earlier, and initiate appropriate lipid lowering therapy early in those already diagnosed with FH. Dr Antonio J. Vallejo-Vaz, Chief Scientist and Co-coordinator of the FHSC at Imperial College London, UK discusses the implications of these findings in this video.

Baseline data in nearly 8,000 children with FH enrolled in the FHSC were also reported (4). Cholesterol levels at entry to the registry were substantially high for children, yet less than 40% were on lipid lowering therapy at this time. Even among those children on lipid lowering therapy, LDL cholesterol levels did not differ much from those not on treatment. These findings imply that children with FH are also undertreated.  This is despite a recent report (5) of 20-year follow-up of statin treatment initiated during childhood. In patients treated from an early age, statin therapy slowed atherosclerosis and reduced cardiovascular risk, and was also safe.

For more information about the EAS FHSC refer to:


  1. Vallejo-Vaz AJ et al. 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. Abstract 1356.
  2. EAS Familial Hypercholesterolaemia Studies Collaboration, Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: