Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Introduction
Familial hypercholesterolaemia (FH) is a now major public health concern [1,2]. Untreated FH confers a significantly higher and earlier atherosclerotic cardiovascular disease (CVD) risk [1,3]. Furthermore, contemporary studies suggest FH to be more common than previously estimated [4]. Yet reports indicate it is still widely underdiagnosed and under-treated [1]. Population characteristics, together with differences in health systems and policies, clinical practice, resources, or available information, among other factors, contribute to variations in FH identification and management across different sites and settings, and countries.
The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is an international initiative which aims to develop a worldwide, cross-regional registry of FH patients and promote a network of investigators interested in FH (www.eas-society.org/fhsc). The EAS FHSC protocol is described elsewhere [5]. Currently, investigators from ∼70 countries are involved [6], with >10,000 cases already included in the registry. Taking advantage of the wide network of FHSC Lead Investigators (FHSC-LI), we conducted a survey to provide an overview of FH status (prevalence/management/initiatives) in different countries involved in the EAS FHSC.
Section snippets
Materials and methods
All FHSC-LI from countries formally involved in the EAS FHSC by mid-May 2018 were invited by email to provide a brief report on FH status in their countries. Specifically, FHSC-LI were asked about (1) “Available information on FH in the country”; (2) “FH programmes and initiatives”; (3) “FH management in the country”. Where more than one FHSC-LI from the same country responded, a final joint report was agreed. Methods are described in detail in the Supplementary Material.
Results
73 of the 81 FHSC-LI responded to the survey, corresponding to 63 countries (from the overall 68 countries in the FHSC network at the time of the study). Information is summarised by WHO region [7] below and in Table 1 and Fig. 1, Fig. 2, Fig. 3, Fig. 4.
Discussion
This survey highlights the lack of information on FH prevalence in most countries. Where available, data tend to agree with contemporary estimates, higher than that traditionally considered [1]. In the absence of data, the general reported figure of 1:250–500 [1] are frequently assumed and extrapolated to local populations. There are, however, several factors that influence FH identification/diagnosis and, thus, estimation of the burden of disease. These include, among others: (i) population
Conflicts of interest
A full disclosure of authors' potential conflicts of interest is shown in the Supplemental Material.
Author contributions
This manuscript was conceived by AJVV, MDM and KKR. The lead investigators wrote a report for their corresponding country/region. AJVV and MDM collated all reports and edited and merged them for inclusion in the manuscript. AJVV and MDM drafted the manuscript. All authors critically reviewed the manuscript and approved its submission.
The funding organisations had no influence on the design and conduct of the study; collection, management, and interpretation of the data; preparation, review or
Acknowledgements
The EAS FHSC project has received support from a Pfizer Independent Grant for Learning & Change 2014 (No: 16157823) and from investigator-initiated unrestricted research grants to the European Atherosclerosis Society from Amgen, MSD, and Sanofi-Aventis.
Acknowledgments for/from specific initiatives and investigators are shown in the Supplemental Material.
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