Publications resulting from analysis of the data collected by the FHSC.
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
Homozygous Familial Hypercholesterolaemia International Clinical Collaboration (HICC) registry
The Lancet. https://doi.org/10.1016/S0140-6736(21)02001-8.
Published Online January 28, 2022
What the authors conclude
Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH.
EAS Commentary
Worldwide, homozygous familial hypercholesterolaemia (HoFH), the most severe form of this high cholesterol disorder, is poorly managed with adverse health outcomes, especially among less affluent countries. These are the take home messages from the Homozygous Familial Hypercholesterolaemia International Clinical Collaboration (HICC) registry, the only international cohort of HoFH, which is partly funded by the European Atherosclerosis Society (EAS) FH Studies Collaboration. Published January, 2022 in The Lancet, these insights from the HICC registry are crucial to driving change in healthcare policy to improve HoFH care.
The HICC is an investigator-initiated project supported by funding from the academic institutions of the collaborators. The EAS provided funding to support a registry coordinator.
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).
The Lancet 2021. https://doi.org/10.1016/S0140-6736(21)01122-3
Published: September 07, 2021
What the authors conclude
Familial hypercholesterolaemia is diagnosed late. Guideline-recommended LDL cholesterol concentrations are infrequently achieved with single-drug therapy. Cardiovascular risk factors and presence of coronary disease were lower among non-index cases, who were diagnosed earlier. Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia.
Joint publication — Global Call to Action on FH — FH scientific & patient groups tackle burden of FH
2nd January 2020 – The EAS, together with FH Studies Collaboration and FH Europe, and in collaboration with the World Heart Federation (WHF), IAS and FH Foundation announced today the publication of a Global Call to Action on familial hypercholesterolaemia (FH) — a vastly under-recognized and poorly managed public health concern — in JAMA Cardiology. Authored by a global panel of scientific experts, public health officials, advocacy leaders and individuals with FH from 40 countries, the report notes glaring gaps in screening and guideline-based care for FH, the most common cause of early and aggressive heart disease.
Conclusions and Relevance By adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.
Overview of the current status of familial hypercholesterolaemia care in over 60 countries – The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
https://www.atherosclerosis-journal.com/article/S0021-9150(18)31359-5/fulltext
Atherosclerosis. October 2018. DOI:https://doi.org/10.1016/j.atherosclerosis.2018.08.051
Highlights
- The EAS FHSC is an international initiative involving a network of investigators interested in FH from around 70 countries.
- Information on FH prevalence is lacking in most countries; where available, data tend to align with contemporary estimates.
- FH diagnosis and management varies widely across countries, with overall suboptimal identification and under-treatment.
- In most countries diagnosis primarily relies on DLCN criteria, and less frequently on Simon Broom or MEDPED.
- Therapy for FH is not universally reimbursed, and criteria vary across countries. Access to PCSK9i and apheresis is limited.
What the authors conclude
FH is a recognised public health concern. Management varies widely across countries, with overall suboptimal identification and under-treatment. Efforts and initiatives to improve FH knowledge and management are underway, including development of national registries, but support, particularly from health authorities, and better funding are greatly needed.
Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration
Atherosclerosis Supplements 22 (2016) 1-32
The potential for global collaborations to better inform public health policy regarding major non-communicable diseases ha-, been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide. Methods: The EAS FHSC will maximise the potential exploitation of currently available and future FH data (retrospective and prospective) by bringing together regional/national/international data sources with access to individuals with a clinical and/or genetic diagnosis of hetero··.ygous or homozygous FH. A novel bespoke electronic platform and FH Data Warehouse will be developed to allow secure data sharing, validation, cleaning, pooling, harmonisation and analysis irrespective of the source or format. Standard statistical procedures will allow us to investigate cross-sectional associations, patterns of real-world practice, trends over time, and analyse risk and outcomes (e.g. cardiovascular outcomes, all-cause death), accounting for potential confounders and subgroup effects.
What the authors conclude
The EAS FHSC represents an excellent opportunity to integrate individual efforts across the world to tackle the global burden of FH. The information garnered from the registry will help reduce gaps in knowledge, inform best practices, assist in clinical trials design, support clinical guidelines and policies development, and ultimately improve the care of FH patients.
Familial hypercholesterolaemia: A global call to arms
https://www.atherosclerosis-journal.com/article/S0021-9150(15)30130-1/fulltext
Atherosclerosis. September 17, 2015. DOI https://doi.org/10.1016/j.atherosclerosis.2015.09.021
Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDL-receptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDL-cholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD). If left untreated, the relative risk of premature coronary artery disease is significantly higher in heterozygous patients than unaffected individuals, with most untreated homozygotes developing ASCVD before the age of 20 and generally not surviving past 30 years. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated, thereby representing a major global public health challenge.
