Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.

Representatives of the Global Familial Hypercholesterolemia Community, Wilemon KA1, Patel J1, Aguilar-Salinas C2,3,4,5, Ahmed CD1, Alkhnifsawi M6,7, Almahmeed W8, Alonso R2,6,9,10, Al-Rasadi K6,11, Badimon L12,13, Bernal LM14, Bogsrud MP15,16, Braun LT17, Brunham L18, Catapano AL19,20, Cillíková K21,22, Corral P2,23, Cuevas R24, Defesche JC25, Descamps OS22,26,27, de Ferranti S28,29, Eiselé JL30, Elikir G2,31, Folco E6,32, Freiberger T33,34, Fuggetta F22,35, Gaspar IM36, Gesztes ÁG22,37, Grošelj U38, Hamilton-Craig I39, Hanauer-Mader G22,40, Harada-Shiba M41, Hastings G22,42, Hovingh GK43, Izar MC44, Jamison A1, Karlsson GN22,45, Kayikçioglu M22,46,47, Koob S48, Koseki M49, Lane S1, Lima-Martinez MM2,50,51, López G52, Martinez TL53, Marais D54, Marion L22,55, Mata P2,9,22, Maurina I22,56, Maxwell D22, Mehta R3,4, Mensah GA57, Miserez AR58,59, Neely D60,61, Nicholls SJ62, Nohara A63, Nordestgaard BG64,65, Ose L66,67, Pallidis A22,68, Pang J69, Payne J22,61, Peterson AL70, Popescu MP22,71, Puri R72,73, Ray KK20,74, Reda A75,76, Sampietro T77,78, Santos RD2,6,79, Schalkers I22,80, Schreier L2,81, Shapiro MD1,82, Sijbrands E83, Soffer D84, Stefanutti C85,86, Stoll M2,87, Sy RG88, Tamayo ML52, Tilney MK89,90, Tokgözoglu L20,91, Tomlinson B92, Vallejo-Vaz AJ74, Vazquez-Cárdenas A2,93,94, de Luca PV95, Wald DS96, Watts GF69,97, Wenger NK98, Wolf M23,99, Wood D30, Zegerius A100, Gaziano TA31,101,102, Gidding SS1.

Author information

1: Familial Hypercholesterolemia Foundation, Pasadena, California.
2: Familial Hypercholesterolemia IberoAmericana Network, Madrid, Spain.
3: Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, México.
4: Departamaento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, México.
5: Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, México.
6: International Atherosclerosis Society, Milan, Italy.
7: Faculty of Medicine, University of Al-Qadisiyah, Al Diwaniyah, Iraq.
8: Heart and Vascular Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
9: Fundación Hipercolesterolemia Familiar, Madrid, Spain.
10: Nutrition Department, Clínica las Condes, Santiago de Chile, Chile.
11: Medical Research Center, Sultan Qaboos University Hospital, Muscat, Oman.
12: Cardiovascular Program-ICCC, IR-Hospital de la Santa Creu I Sant Pau, CiberCV, Barcelona, Spain.
13: European Society of Cardiology, Biot, France.
14: Escuela de Ciencias de la Salud, Universidad Nacional Abierta y a Distancia, Bogotá, Colombia.
15: Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
16: Norwegian National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity, and Preventive Medicine, Oslo University Hospital, Oslo, Norway.
17: Department of Adult Health and Gerontological Nursing, Rush University, Chicago, Illinois.
18: Centre for Heart Lung Innovation, St Paul's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
19: Department of Pharmacological and Biomolecular Sciences, University of Milan and MultiMedica Institute for Research, Hospitalization, and Health Care, Milano, Italy.
20: European Atherosclerosis Society, Göteborg, Sweden.
21: Diagnóza FH, Czech Republic.
22: FH Europe, Europe.
23: FASTA University School of Medicine, Mar del Plata, Argentina.
24: Pacientes de Corazón, Mexico City, Mexico.
25: Department of Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
26: Centres Hospitaliers Jolimont, Haine Saint-Paul, Belgium.
27: Belchol, Belgium.
28: Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
29: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.
30: World Heart Federation, Geneva, Switzerland.
31: Sociedad Argentina de Lípidos, Cordoba, Argentina.
32: Italian Heart Foundation-Fondazione Italiana Per il Cuore, Milan, Italy.
33: Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
34: Central European Institute of Technology and Medical Faculty, Masaryk University, Brno, Czech Republic.
35: Associazione Nazionale Ipercolesterolemia Familiare, Rome, Italy.
36: Lisbon Medical School, Centro Hospitalar de Lisboa Ocidental and Genetics Laboratory, Medical Genetics Department, University of Lisbon, Lisbon, Portugal.
37: Szivesen Segitünk Neked, FH Hungary Patient Organisation, Budapest, Hungary.
38: University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.
39: Flinders University School of Medicine, Adelaide, South Australia, Australia.
40: FHchol Austria, Vienna, Austria.
41: National Cerebral and Cardiovascular Centre Research Institute, Suita, Osaka, Japan.
42: Gruppo Italiano Pazienti-Familial Hypercholesterolemia, Milano, Italy.
43: Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, the Netherlands.
44: Federal University of São Paulo, São Paulo, São Paulo, Brazil.
45: FH Sverige, Uppsala, Sweden.
46: Department of Cardiology, Medical Faculty, Ege University, Izmir, Turkey.
47: Ailevi Hiperkolesterolemi Derneği (Association of Familial Hypercholesterolemia), Bayraklı/İzmir, Turkey.
48: Preventive Cardiovascular Nurses Association, Madison, Wisconsin.
49: Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
50: Department of Physiological Sciences, Universidad de Oriente, Ciudad Bolivar, Venezuela.
51: Endocrinology, Diabetes, Metabolism, and Nutrition Unit, Ciudad Bolivar, Venezuela.
52: Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia.
53: São Paulo Heart Institute, São Paulo, Brazil.
54: Division of Chemical Pathology, Health Science Faculty, University of Cape Town, Cape Town, South Africa.
55: Association Nationale des Hypercholestérolémies Familiales, Reims, France.
56: ParSirdi.lv Patient Society, Riga, Latvia.
57: Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.
58: Diagene Research Institute, Swiss FH Center, Reinach, Switzerland.
59: Faculty of Medicine, University of Basel, Basel, Switzerland.
60: Department of Blood Sciences, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.
61: HEART UK, Berkshire, United Kingdom.
62: Monash Cardiovascular Research Centre, Monash University, Melbourne, Victoria, Australia.
63: Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.
64: Copenhagen General Population Study, Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
65: Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
66: Lipid Clinic, Department of Endocrinology, Morbid Obesity, and Preventive Medicine, Oslo University Hospital, Oslo, Norway.
67: Institute of Basic Medical Sciences, Department of Nutrition, University of Oslo, Oslo, Norway.
68: Association of Familial Hypercholesterolemia, LDL Greece, Greece.
69: Faculty of Health and Medical Sciences, University of Western Australia School of Medicine, Perth, Western Australia, Australia.
70: Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
71: Fundația pentru Ocrotirea Bolnavilor cu Afectuni Cardiovasculare, Bucharest, Romania.
72: Department of Cardiology, Apollo Hospital, New Delhi, India.
73: Lipid Association of India, New Delhi, India.
74: Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, Imperial College of London School of Public Health, London, United Kingdom.
75: Cardiology Department, Menofia University, Shibin Al Kawm, Al Minufiyah, Egypt.
76: Egyptian Association of Vascular Biology and Atherosclerosis, Cairo, Egypt.
77: Lipoapheresis Unit, Reference Center for Inherited Dyslipidemias, Fondazione CRN-Toscana Gabriele Monasterio, Pisa, Italy.
78: Italian Association of Inherited Dyslipidemias, Cascina Pisa, Italy.
79: Lipid Clinic Heart Institute, Hospital Israelita Albert Einstein, University of São Paulo Medical School Hospital, São Paulo, Brazil.
80: Harteraad, the Hague, the Netherlands.
81: Laboratorio de Lípidos y Aterosclerosis, Departamento de Bioquímica Clínica, IndianaFIBIOC-UBA, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.
82: Section of Cardiovascular Medicine, Center for Preventive Cardiology, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina.
83: Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
84: University of Pennsylvania Health System, Philadelphia, Pennsylvania.
85: Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
86: Extracorporeal Therapeutic Techniques Unit, Lipid Clinic, Regional Centre for Rare Metabolic Diseases, Umberto I Hospital, Rome, Italy.
87: Honorary Commission for Cardiovascular Health, Montevideo, Uruguay.
88: Department of Medicine, University of the Philippines-Philippine General Hospital, Manila, Philippines.
89: Department of Medicine, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
90: Lipid Clinic, Mater Dei Hospital, Msida, Malta.
91: Department of Cardiology of Cardiology, Hacettepe Univeristy, Ankara, Turkey.
92: Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, Hong Kong SAR.
93: Facultad de Medicina, Universidad Autónoma de Guadalajara, Zapopan, Jalisco, México.
94: Associación Mexícana de Hipercolesterolemia Familiar, México.
95: Associação Brasileira de Hipercolesterolemia Familiar, Brazil.
96: Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, United Kingdom.
97: Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia.
98: Emory Women's Heart Center, Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia.
99: Patients' Organization for Patients with Familial Hypercholesterolaemia or Related Genetic Lipid Disorders, Frankfurt, Germany.
100: Individuals With Familial Hypercholesterolemia, the Hague, the Netherlands.
101: Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
102: Department of Health Policy and Management, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

Abstract

IMPORTANCE:

Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH.

OBSERVATIONS:

In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created.

CONCLUSIONS AND RELEVANCE:

By adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.