Antonio J Vallejo-Vaz1, Martina De Marco2, Christophe A T Stevens3, Asif Akram4, Tomas Freiberger5, G Kees Hovingh6, John J P Kastelein6, Pedro Mata7, Frederick J Raal8, Raul D Santos9, Handrean Soran10, Gerald F Watts11, Marianne Abifadel12, Carlos A Aguilar-Salinas13, Mutaz Al-Khnifsawi14, Fahad A AlKindi15, Fahad Alnouri16, Rodrigo Alonso17, Khalid Al-Rasadi18, Ahmad Al-Sarraf19, Tester F Ashavaid20, Christoph J Binder21, Martin P Bogsrud22, Mafalda Bourbon23, Eric Bruckert24, Krzysztof Chlebus25, Pablo Corral26, Olivier Descamps27, Ronen Durst28, Marat Ezhov29, Zlatko Fras30, Jacques Genest31, Urh Groselj32, Mariko Harada-Shiba33, Meral Kayikcioglu34, Katarina Lalic35, Carolyn S P Lam36, Gustavs Latkovskis37, Ulrich Laufs38, Evangelos Liberopoulos39, Jie Lin40, Vincent Maher41, Nelson Majano42, A David Marais43, Winfried März44, Erkin Mirrakhimov45, André R Miserez46, Olena Mitchenko47, Hapizah M Nawawi48, Børge G Nordestgaard49, György Paragh50, Zaneta Petrulioniene51, Belma Pojskic52, Arman Postadzhiyan53, Ashraf Reda54, Željko Reiner55, Wilson E Sadoh56, Amirhossein Sahebkar57, Abdullah Shehab58, Aleksander B Shek59, Mario Stoll60, Ta-Chen Su61, Tavintharan Subramaniam62, Andrey V Susekov63, Phivos Symeonides64, Myra Tilney65, Brian Tomlinson66, Thanh-Huong Truong67, Alexandros D Tselepis68, Anne Tybjærg-Hansen69, Alejandra Vázquez-Cárdenas70, Margus Viigimaa71, Branislav Vohnout72, Elisabeth Widén73, Shizuya Yamashita74, Maciej Banach75, Dan Gaita76, Lixin Jiang77, Lennart Nilsson78, Lourdes E Santos79, Heribert Schunkert80, Lale Tokgözoğlu81, Josip Car82, Alberico L Catapano83, Kausik K Ray3. 1. Imperial Centre for Cardiovascular Disease Prevention (ICCP), Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom. Electronic address: a.vallejo-vaz@imperial.ac.uk. 2. Imperial Centre for Cardiovascular Disease Prevention (ICCP), Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom. Electronic address: m.de-marco12@imperial.ac.uk. 3. Imperial Centre for Cardiovascular Disease Prevention (ICCP), Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom. 4. Living Goods, Nairobi, Kenya. 5. Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Central European Institute of Technology, Masaryk University, Brno, Czech Republic. 6. Department of Vascular Medicine, Academic Medical Centre, Amsterdam, the Netherlands. 7. Fundación Hipercolesterolemia Familiar, Madrid, Spain. 8. Division of Endocrinology & Metabolism, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. 9. Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil; Hospital Israelita Albert Einstein, Sao Paulo, Brazil. 10. University Department of Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom. 11. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Australia; FH Australasia Network (FHAN), Australia. 12. Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University, Beirut, Lebanon. 13. Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, Mexico. 14. Al-Qadisiyah University, Faculty of Medicine, Department of Internal Medicine, Diwaniya City, Iraq. 15. Hamad Medical Corporation, Heart Hospital, Doha, Qatar. 16. Cardiovascular Prevention Unit, Prince Sultan Cardiac Centre Riyadh, Riyadh, Saudi Arabia. 17. Clínica Las Condes, Santiago de Chile, Chile. 18. Sultan Qaboos University Hospital, Muscat, Oman. 19. Laboratory Department, Kuwait Cancer Control Centre, Kuwait City, Kuwait. 20. P. D Hinduja National Hospital and Medical Research Centre, Mumbai, India. 21. Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria. 22. Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Norwegian National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway. 23. Unidade I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; Faculty of Sciences, Biosystems & Integrative Sciences Institute (BioISI), University of Lisboa, Lisboa, Portugal. 24. Department of Endocrinology, Institut E3M et IHU Cardiométabolique (ICAN), Hôpital Pitié Salpêtrière, Paris, France. 25. First Department of Cardiology, Medical University of Gdansk, Gdańsk, Poland; Clinical Centre of Cardiology, University Clinical Centre, Gdańsk, Poland. 26. Pharmacology Department, School of Medicine, FASTA University, Mar del Plata, Argentina. 27. Centres Hospitaliers Jolimont, Haine Saint-Paul, Belgium. 28. Cardiology Department and Centre for Treatment and Prevention of Atherosclerosis, Hadassah Hebrew University Medical Centre, Jerusalem, Israel. 29. National Cardiology Research Centre, Ministry of Health of the Russian Federation, Russia. 30. University Medical Centre Ljubljana, Division of Medicine, Preventive Cardiology Unit, Ljubljana, Slovenia; Medical Faculty, University of Ljubljana, Ljubljana, Slovenia. 31. Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. 32. University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana, Slovenia. 33. National Cerebral and Cardiovascular Centre Research Institute, Suita, Osaka, Japan. 34. Ege University Medical School, Department of Cardiology, Izmir, Turkey. 35. Faculty of Medicine, University of Belgrade, Belgrade, Serbia; Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Centre of Serbia, Belgrade, Serbia. 36. National Heart Centre, Singapore; Duke-NUS Medical School, Singapore. 37. Research Institute of Cardiology and Regenerative Medicine, Faculty of Medicine, University of Latvia, Pauls Stradins Clinical University Hospital, Riga, Latvia. 38. Klinik und Poliklinikfür Kardiologie, Universitätsklinikum Leipzig, Germany. 39. Faculty of Medicine, University of Ioannina, Ioannina, Greece. 40. Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. 41. Advanced Lipid Management and Research (ALMAR) Centre, Ireland. 42. Hospital Militar de Caracas, Caracas, Venezuela. 43. University of Cape Town and National Health Laboratory Service, Cape Town, South Africa. 44. Medizinische Klinik V (Nephrologie, Hypertensiologie, Rheumatologie, Endokrinologie, Diabetologie), Medizinische Fakultät Mannheim der Universität Heidelberg, Mannheim, Germany; Klinisches Institutfür Medizinische und Chemische Labordiagnostik, Medizinische Universität Graz, Graz, Austria; Synlab Akademie, Synlab Holding Deutschland GmbH, Mannheim und Augsburg, Germany; D-A-CH-Gesellschaft Prävention von Herz-Kreislauf-Erkrankungen e.V., Hamburg, Germany. 45. Kyrgyz State Medical Academy, Centre of Cardiology and Internal Diseases, Biskek, Kyrgizstan. 46. Diagene Research Institute, Swiss FH Center, Reinach, Switzerland; Faculty of Medicine, University of Basel, Basel, Switzerland. 47. Dyslipidemia Department, State Institution National Scientific Centre "The M.D. Strazhesko Institute of Cardiology National Academy of Medical Sciences of Ukraine", Kiev, Ukraine. 48. Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM) and Faculty of Medicine Universiti Teknologi MARA, Jalan Hospital, Sungai Buloh, Selangor, Malaysia. 49. Department of Clinical Biochemistry and the Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Denmark. 50. Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. 51. Vilnius University, Faculty of Medicine, Vilnius, Lithuania; Clinic of Cardiac and Vascular Diseases, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania. 52. Cantonal Hospital Zenica, Bosnia and Herzegovina. 53. Bulgarian Society of Cardiology, Medical University of Sofia, Sofia, Bulgaria. 54. Cardiology, Menofia University, Egypt; Egyptian Association of Vernacular Biology and Atherosclerosis (EAVA), Egypt. 55. Department of Internal Medicine, Division of Metabolic Diseases, University Hospital Centre Zagreb, School of Medicine, University of Zagreb, Zagreb, Croatia. 56. Cardiology Unit, Department of Child Health, University of Benin Teaching Hospital, Benin City, Edo State, Nigeria. 57. Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran; Neurogenic Inflammation Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran. 58. Department of Internal Medicine, United Arab Emirates University-College of Medicine and Health Sciences, AlAin, United Arab Emirates. 59. CAD and Atherosclerosis Laboratory, Republican Specialized Centre of Cardiology (RSCC), Ministry of Health of the Republic of Uzbekistan, Tashkent, Uzbekistan. 60. Honorary Commission for Cardiovascular Health (CHSCV), Montevideo, Uruguay. 61. Departments of Internal Medicine and Environmental & Occupational Medicine, Cardiovascular Centre, National Taiwan University Hospital, Taipei, Taiwan. 62. Diabetes Centre, Admiralty Medical Centre, Singapore; Division of Endocrinology, Khoo Teck Puat Hospital, Singapore; Clinical Research Unit, Khoo Teck Puat Hospital, Singapore. 63. Faculty of Clinical Pharmacology and Therapeutics, Academy for Postgraduate Medical Education and Central Clinical Hospital, Academy of Medical Science, Moscow, Russia. 64. Hippocrateon Private Hospital, Nicosia, Cyprus. 65. Department of Medicine, Faculty of Medicine and Surgery, University of Malta, Malta; Lipid Clinic, Mater Dei Hospital, Malta. 66. Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong Special Administrative Region. 67. Department of Cardiology, Hanoi Medical University, Hanoi, Viet Nam; Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Viet Nam. 68. Atherothrombosis Research Centre, University of Ioannina, Ioannina, Greece. 69. Department of Clinical Biochemistry and the Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Denmark. 70. Facultad de Medicina, Universidad Autónoma de Guadalajara, Guadalajara, Mexico. 71. Centre for Cardiovascular Medicine, North Estonia Medical Centre, Tallinn University of Technology, Tallinn, Estonia. 72. Institute of Nutrition, FOZOS, Slovak Medical University, Bratislava, Slovakia; Coordination Centre for Familial Hyperlipoproteinemias, Slovak Medical University, Bratislava, Slovakia. 73. Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland. 74. Rinku General Medical Centre and Osaka University Graduate School of Medicine, Osaka, Japan. 75. Department of Hypertension, Medical University of Lodz, Lodz, Poland. 76. Universitatea de Medicina si Farmacie Victor Babes din Timisoara, Romania. 77. National Clinical Research Centre of Cardiovascular Diseases, Fuwai Hospital, National Centre for Cardiovascular Diseases, Beijing, China. 78. Department of Medical and Health Sciences, Linköping University, Linköping, Sweden. 79. Cardinal Santos Medical Centre, University of the Philippines - Philippine General Hospital (UP-PGH), Philippines. 80. Deutsches Herzzentrum München, Technische Universität München, Deutsches Zentrumfür Herz- und Kreislauferkrankungen (DZHK), Munich Heart Alliance, Germany. 81. Department of Cardiology, Hacettepe University, Ankara, Turkey. 82. Global eHealth Unit, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom; Centre for Population Health Sciences, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore. 83. Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; IRCCS MultiMedica, Sesto S. Giovanni, Milan, Italy.
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.
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.
Authors: Anselm K Gitt; Ulrich Laufs; Winfried März; W Dieter Paar; Peter Bramlage; Nikolaus Marx; Klaus G Parhofer Journal: J Clin Med Date: 2022-06-30 Impact factor: 4.964
Authors: Gerald F Watts; Samuel S Gidding; Pedro Mata; Jing Pang; David R Sullivan; Shizuya Yamashita; Frederick J Raal; Raul D Santos; Kausik K Ray Journal: Nat Rev Cardiol Date: 2020-01-23 Impact factor: 32.419
Authors: Michał Podgórski; Katarzyna Szatko; Małgorzata Stańczyk; Monika Pawlak-Bratkowska; Agnieszka Konopka; Ewa Starostecka; Marcin Tkaczyk; Sebastian Góreczny; Lena Rutkowska; Agnieszka Gach; Maciej Łukaszewski; Piotr Grzelak; Maciej Banach Journal: Lipids Health Dis Date: 2020-07-14 Impact factor: 3.876
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