Original ArticleComparative aspects of the care of familial hypercholesterolemia in the “Ten Countries Study”
Introduction
Familial hypercholesterolemia (FH) is a dominantly inherited disorder owing to gene variants in the low-density lipoprotein (LDL) receptor pathway that cause markedly elevated plasma LDL cholesterol concentrations.1 Untreated FH leads to premature death from coronary artery disease (CAD) due to accelerated atherosclerosis from birth. The prevalence of heterozygous FH is estimated to be 1 in 200 to 1 in 5002, 3, 4 in unselected community populations, with an estimated 30 million people worldwide, including 3.6 million individuals in the Asia-Pacific region alone. In many countries, less than 1% of patients with FH are reported to be diagnosed.5
Despite the increasing recognition of the importance of FH,6 the care for patients with FH remains suboptimal, particularly in aspects of screening, diagnosis, and treatment of this condition.7 This may reflect the lack of implementation and organization of evidence-based utilization of services and treatments.8
According to international recommendations, effective models of care for FH should include the use of genetic and imaging services, effective cholesterol-lowering therapies, registries, education and training programs, patient support groups, and clinical audit and research.1, 9 However, information on the existing care and services are lacking in the Asia-Pacific region and Southern Hemisphere. Redressing inequalities and imbalances in care and the implementation of effective solutions requires garnering of more knowledge and comparing health care resources in countries across the globe.
We report on the outcomes of an investigation into the diverse aspects of the health care of FH in selected countries in the Asia-Pacific region and the Southern Hemisphere, as well as in the United Kingdom (UK) as a benchmark.
Section snippets
Methods
The present study was undertaken as part of the “Ten Countries Study”, a series of translational research projects investigating several aspects of the care of FH.10, 11, 12, 13 The methodology has been as previously described.10 The countries included in the present study are Australia, China, Hong Kong, Japan, Malaysia, New Zealand, Philippines, Taiwan, and Vietnam that were members of the Asian-Pacific Society of Atherosclerosis and Vascular Disease, and South Africa and Brazil (in the
Population statistics and health care expenditure
Table 1 shows the estimated number of patients with FH, the proportion of patients with FH diagnosed, and government expenditure on health care in each of the 12 countries. As anticipated, the estimated number of patients with FH was highest in China. However, the percentage of people diagnosed with FH was low, being <3% in most countries (Fig. 1). The exceptions were the UK (∼15%), South Africa (5.3%), Australia (4.0%), and in Taiwan (3.8%). China, Philippines, and Vietnam had detection rates
Discussion
The present study is the first to investigate the services and facilities for the care of FH across several countries in the Asia-Pacific region and South Hemisphere. Although the UK, Australia, and Japan are providing FH patients with relatively better services and facilities, FH remains largely underdiagnosed and inadequately treated, particularly in less economically developed countries, such as the Philippines and Vietnam.
Conclusion
The present study identified important deficits in the detection and treatment of FH, in the care of FH across countries in the Asia-Pacific region and Southern Hemisphere. The UK, Australia, and Japan appeared to provide better services and facilities to patients with FH. Major FH detection and treatment gaps were identified in countries that are less economically developed, including the Philippines and Vietnam. Implementation of health technology assessment for the care of FH is important to
Acknowledgments
Authors' contributions: GFW, SY, BT, HS, RDS, THT, LGS, HMN, ADM, JL, and PMG were investigators who contributed to the concept or design of the study. JP, DC, MH, LAU, SK, MJC, CMF, DDL, TCS, ZA, and GFW contributed to data acquisition in the “Ten Countries Study”. JP, DC, ZA, and GFW contributed to the statistical analyses. All authors contributed to the interpretation of data and critically reviewed and edited the manuscript. All authors approved the final version. In addition, all authors
References (62)
- et al.
Integrated guidance on the care of familial hypercholesterolaemia from the international FH foundation
Int J Cardiol
(2014) - et al.
Familial hypercholesterolemia in China: prevalence and evidence of underdetection and undertreatment in a community population
Int J Cardiol
(2014) - et al.
Prevalence and treatment of familial hypercholesterolemia in Australian communities
Int J Cardiol
(2015) - et al.
Improving the global care of familial hypercholesterolaemia: starting the ball rolling
Atherosclerosis
(2018) - et al.
Familial hypercholesterolaemia: a global call to arms
Atherosclerosis
(2015) - et al.
Barriers to PCSK9 inhibitor prescriptions for patients with high cardiovascular risk: results of a healthcare provider survey conducted by the national lipid association
J Clin Lipidol
(2017) - et al.
Effects of medication, treatment, and behavioral beliefs on intentions to take medication in patients with familial hypercholesterolemia
Atherosclerosis
(2018) - et al.
Heterozygous familial hypercholesterolaemia in specialist centres in South Africa, Australia and Brazil: importance of early detection and lifestyle advice
Atherosclerosis
(2018) - et al.
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS familial hypercholesterolaemia studies collaboration (FHSC)
Atherosclerosis
(2018) - et al.
2017 Taiwan lipid guidelines for high risk patients
J Formos Med Assoc
(2017)
EART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom
Atherosclerosis
Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in wales
Atherosclerosis
Homozygous familial hypercholesterolaemia in Vietnam: case series, genetics and cascade testing of families
Atherosclerosis
Cascade screening for familial hypercholesterolemia: practical consequences
Atheroscler Suppl
Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolaemia
J Clin Lipidol
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the national lipid association expert panel on familial hypercholesterolemia
J Clin Lipidol
Universal screening at age 1–2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: a cost-utility analysis
Atherosclerosis
Universal screening for familial hypercholesterolemia in children
J Am Coll Cardiol
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects
Atherosclerosis
Clinical genetic testing for familial hypercholesterolemia: JACC scientific expert panel
J Am Coll Cardiol
Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International atherosclerosis society severe familial hypercholesterolemia panel
Lancet Diabetes Endocrinol
Coronary heart disease mortality in severe vs. non-severe familial hypercholesterolaemia in the Simon Broome Register
Atherosclerosis
Anxiety, depression, and health-related quality of life in heterozygous familial hypercholesterolemia: a systematic review and meta-analysis
J Psychosom Res
High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study
Lancet Diabetes Endocrinol
Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia
Int J Cardiol
Lipoprotein (a): lodestar for future clinical trials
Lancet
Squaring up the health economics of PCSK9 monoclonal antibodies ‘down under’
Int J Cardiol
Optimising the detection and management of familial hypercholesterolaemia: central role of primary care and its integration with specialist services
Heart Lung Circ
Familial hypercholesterolaemia patient support groups and advocacy: a multinational perspective
Atherosclerosis
Familial hypercholesterolemia prevalence in an admixed racial society: sex and race matter. The ELSA-Brasil
Atherosclerosis
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan
Atherosclerosis
Cited by (31)
Barriers to and Facilitators of Implementing Guidelines for Detecting Familial Hypercholesterolaemia in Australia
2023, Heart Lung and CirculationTackling cardiometabolic risk in the Asia Pacific region
2020, American Journal of Preventive CardiologyFamilial Hypercholesterolaemia in 2020: A Leading Tier 1 Genomic Application
2020, Heart Lung and CirculationReducing cardiovascular risk in patients with familial hypercholesterolemia: Risk prediction and lipid management
2019, Progress in Cardiovascular DiseasesCitation Excerpt :The few exceptions are 71% diagnosed in the Netherlands, 43% in Norway, 19% in Iceland, 13% in Switzerland, 12% in the UK, and 6% in Spain.9 A sub-analysis of the “Ten Countries Study” done in Asia-Pacific and Southern Hemisphere showed that in most participating countries <3% of FH cases were diagnosed.10 There was a gradient with lesser diagnosis in less developed regions of the world in comparison with the UK.
A cross-national investigation of cardiovascular survival in homozygous familial hypercholesterolemia: The Sino-Roman Study
2019, Journal of Clinical LipidologyCitation Excerpt :We attempted to compare country outcomes according to the availability of LA and drug therapies. The differences in country-specific health services and government health expenditure (ie, health expenditure as a share of Gross Domestic Product is 8.9% in Italy compared with 5.5% in China47) could account for differences in the availability of LA as well as diversity in other medical care offered to patients.11 Our study has implications for other countries, particularly in the Asia–Pacific region as recently described.11
International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia
2023, Nature Reviews Cardiology