Elsevier

Atherosclerosis

Volume 277, October 2018, Pages 234-255
Atherosclerosis

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

https://doi.org/10.1016/j.atherosclerosis.2018.08.051Get rights and content

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.

Abstract

Background and aims

Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries.

Methods

Lead Investigators from countries formally involved in the EAS FHSC by mid-May 2018 were invited to provide a brief report on FH status in their countries, including available information, programmes, initiatives, and management.

Results

63 countries provided reports. Data on FH prevalence are lacking in most countries. Where available, data tend to align with recent estimates, suggesting a higher frequency than that traditionally considered. Low rates of FH detection are reported across all regions. National registries and education programmes to improve FH awareness/knowledge are a recognised priority, but funding is often lacking. In most countries, diagnosis primarily relies on the Dutch Lipid Clinics Network criteria. Although available in many countries, genetic testing is not widely implemented (frequent cost issues). There are only a few national official government programmes for FH. Under-treatment is an issue. FH therapy is not universally reimbursed. PCSK9-inhibitors are available in ∼2/3 countries. Lipoprotein-apheresis is offered in ∼60% countries, although access is limited.

Conclusions

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.

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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