September 07, 2021 – Gothenburg, Sweden
First data from the European Atherosclerosis Society (EAS) Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry of over 42,000 individuals from 56 countries, provides a unique snapshot into the worldwide burden and challenges of FH care. Detection needs to be earlier, with greater use of intensive lipid-lowering therapy, including combination treatment, to attain guideline goals. Treatment of women also lags that of men. The findings were published today in The Lancet.
FH is an inherited condition that affects about one in 300 people, more than 25 million people worldwide.1,2 Without effective lipid-lowering treatment, people with FH are at increased risk of early heart attacks, often in middle-age, due to elevated low-density lipoprotein cholesterol (LDL C) levels from birth. 3 Early detection is essential to reduce this debilitating burden of disease and to gain decades of healthy life for people with FH.
The FHSC registry was established in 2015 with the mission of empowering the global clinical community to seek change in how FH is detected and managed.4 According to Professor Kausik K. Ray (Imperial College London, UK), who leads the FHSC registry: “The challenges of FH were highlighted by the World Health Organization (WHO) Report on FH in 1998.5 However, progress in implementing the recommendations to address these challenges has been limited. First data from the FHSC provide a baseline for current FH care worldwide, critical to understanding based on 42,167 adults with heterozygous FH (53.6 percent women), shows that diagnosis of FH is usually delayed, as less than half of patients (about 40 percent) were under 40 years when detected. Among about 30,000 adults with data, the median age of FH diagnosis was 44.4 years; one in six already had heart disease at entry to the registry. Lead author, Dr Antonio J. Vallejo Vaz, FHSC Chief Scientist (Imperial College London, UK) said: “As an inherited condition, FH is diagnosed too late, on average in the mid-40s, meaning that many years elapse before patients are identified and treatment is started. Late diagnosis also potentially misses out on opportunities to address other cardiovascular risk factors which become more prevalent with increasing age. Identification of FH must be improved to detect those affected much earlier.”
Guidelines recommend that combination lipid-lowering therapy is essential to attain LDL-C goal in adults with FH.6 Among patients in the FHSC registry on lipid-lowering therapy (59.9 percent), most were on a statin (81 percent). Few were on the highest statin doses and only about one in five were on combination lipid lowering therapy. Compared with men, women were less likely to receive the most potent statin doses or combination lipid lowering therapy, despite having higher LDL-C levels from age 50 years. Overall, less than 3 percent of patients on treatment attained LDL-C levels <1.8 mmol/L (<70 mg/dL), less so among women than men.
This FHSC report reinforces the value of early family screening for FH when a person is diagnosed with this condition (index case). Compared with index FH cases, individuals identified by screening were younger, had lower untreated LDL-C levels (by about 1.55 mmol/L or 60 mg/dL), and were less likely to have other cardiovascular risk factors such as high blood pressure or diabetes, or clinical coronary artery disease. Renewed efforts for public health policy for screening for FH is crucial to overcome missed opportunities to identify affected family members and initiate lipid-lowering therapy early.
Professor Kausik K. Ray added: “Over 20 years on from the WHO report, these first data from the global FHSC registry show that there is much to do in all world regions to improve FH care. Action is also needed to correct disparities in treatment between men and women. Findings from this unique registry are crucial for driving improvement in health policy for this common inherited condition across the globe, the mission of the FHSC.”
This mission underpins the FHSC – FH Europe Partnership, a network of European FH patients’ organisations, working together to achieve the common goal of improving FH care policy. Magdalena Daccord, Chief Executive of FH Europe said: “FH Europe welcomes this important paper from the FHSC. Together with this global FH registry, we strive to improve healthcare policy around familial hypercholesterolaemia, so that individuals and their families impacted by inherited high cholesterol are identified as early as possible and treated optimally. These data will drive innovation and support our advocacy efforts to prevent premature cardiovascular disease and to offer all FH patients an equal opportunity to live longer and healthier lives.”
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). The Lancet 2021; doi: https://doi.org/10.1016/S0140-6736(21)01122-3
- Hu P, Dharmayat KI, Stevens CAT, et al. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: A systematic review and meta-analysis. Circulation 2020; 141: 1742-59.
- EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, Stevens CAT, et al. Overview of the current status of familial hypercholesterolaemia care in over 60 countries – The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Atherosclerosis 2018; 277:23: 4-55.
- Nordestgaard BG, Chapman MJ, Humphries SE, et al; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478-90a.
- EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, et al. 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. Atheroscler Suppl 2016; 22: 1-32.
- Familial Hypercholesterolemia [FH]: Report of a WHO Consultation. World Health Organization, Human Genetics Programme, Division of Noncommunicable Diseases. WHO/HGN/FH/CONS/98.7. Geneva, 1998.
- Mach F, Baigent C, Catapano AL, et al; ESC Scientific Document Group. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J 2020; 41: 111-88.