Pooled global registry tracking people with familial hypercholesterolaemia
Observational study pooling anonymised registry data on people with familial hypercholesterolaemia worldwide.
Plain-language title generated from the registry record
Registry title: EAS Familial Hypercholesterolaemia Studies Collaboration
Key facts
- Where
- London, United KingdomSee the site
Where in United Kingdom
- School of Public Health, Imperial College LondonLondon, United KingdomTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Imperial College London
- Trial code
- NCT04272697
- Record updated
- 4 March 2026
- Original description
Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, reports shows that FH is under-diagnosed and under-treated.Read full original descriptionShow less
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, reports shows that FH is under-diagnosed and under-treated.
Efforts to tackle the global burden of FH have been hindered by a lack of global cohesion, with data held in disparate formats across many sites/countries, resulting in fragmentation and lack of harmonized data from different cohorts. A lack of structure and the availability of limited resources have made it hitherto difficult to integrate these cohorts thus far.
The EAS FHSC is a global initiative of stakeholders involved in the care of people living with FH that seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data are sourced from multiple active national/regional/local registries across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry where data is standardised, pooled, harmonised and integrated into a single global database.
The FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. This multi-national pooled dataset facilitates clinical observational (non-interventional) studies to address multiple scientific inquires. This hypothesis-free epidemiology research will report on the characteristics of FH worldwide more accurately and inform the development of clinical guidelines and healthcare policy.
Inclusion: Clinical and/or genetic diagnosis of heterozygous or homozygous familial hypercholesterolaemia (FH); Relatives of index cases without a diagnosis of FH where screening (cascade or other) is carried out; The data have been de-identified prior to transferring to the EAS FHSC Global Registry.
Exclusion: Secondary causes of dyslipidaemia (e.g. untreated hypothyroidism, cholestasis, nephrotic syndrome); Where data collection does not conform to the local or country wide standards for anonymised data.