Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
Por:
Wilemon, KA, Patel, J, Aguilar-Salinas, C, Ahmed, CD, Alkhnifsawi, M, Almahmeed, W, Alonso, R, Al-Rasadi, K, Badimon, L, Bernal, LM, Bogsrud, MP, Braun, LT, Brunham, L, Catapano, AL, Cillikova, K, Corral, P, Cuevas, R, Defesche, JC, Descamps, OS, de Ferranti, S, Eisele, JL, Elikir, G, Folco, E, Freiberger, T, Fuggetta, F, Gaspar, IM, Gesztes, AG, Groselj, U, Hamilton-Craig, I, Hanauer-Mader, G, Harada-Shiba, M, Hastings, G, Hovingh, GK, Izar, MC, Jamison, A, Karlsson, GN, Kayikcioglu, M, Koob, S, Koseki, M, Lane, S, Lima-Martinez, MM, Lopez, G, Martinez, TL, Marais, D, Marion, L, Mata, P, Maurina, I, Maxwell, D, Mehta, R, Mensah, GA, Miserez, AR, Neely, D, Nicholls, SJ, Nohara, A, Nordestgaard, BG, Ose, L, Pallidis, A, Pang, J, Payne, J, Peterson, AL, Popescu, MP, Puri, R, Ray, KK, Reda, A, Sampietro, T, Santos, RD, Schalkers, I, Schreier, L, Shapiro, MD, Sijbrands, E, Soffer, D, Stefanutti, C, Stoll, M, Sy, RG, Tamayo, ML, Tilney, MK, Tokgozoglu, L, Tomlinson, B, Vallejo-Vaz, AJ, Vazquez-Cardenas, A, de Luca, PV, Wald, DS, Watts, GF, Wenger, NK, Wolf, M, Wood, D, Zegerius, A, Gaziano, TA, Gidding, SS, Global Familial
Publicada:
1 feb 2020
Resumen:
ImportanceFamilial 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. ObservationsIn 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 RelevanceBy 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.
This guideline presents updated recommendations for management of familial hypercholesterolemia. (c) 2020 American Medical Association. All rights reserved.
Filiaciones:
Wilemon, KA:
Familial Hypercholesterolemia Fdn, 959 E Walnut St,Ste 220, Pasadena, CA 91106 USA
Patel, J:
Familial Hypercholesterolemia Fdn, 959 E Walnut St,Ste 220, Pasadena, CA 91106 USA
Aguilar-Salinas, C:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Unidad Invest Enfermedades Metab, Mexico City, DF, Mexico
Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Endocrinol & Metab, Mexico City, DF, Mexico
Escuela Med & Ciencias Salud, Tecnol Monterrey, Monterrey, Mexico
Ahmed, CD:
Familial Hypercholesterolemia Fdn, 959 E Walnut St,Ste 220, Pasadena, CA 91106 USA
Alkhnifsawi, M:
Int Atherosclerosis Soc, Milan, Italy
Univ Al Qadisiyah, Fac Med, Al Diwaniyah, Iraq
Almahmeed, W:
Cleveland Clin Abu Dhabi, Inst Heart & Vasc, Abu Dhabi, U Arab Emirates
Alonso, R:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Int Atherosclerosis Soc, Milan, Italy
Fdn Hipercolesterolemia Familiar, Madrid, Spain
Clin Las Condes, Dept Nutr, Santiago, Chile
Al-Rasadi, K:
Int Atherosclerosis Soc, Milan, Italy
Sultan Qaboos Univ Hosp, Med Res Ctr, Muscat, Oman
Badimon, L:
IR Hosp Santa Creu & St Pau, Cardiovasc Program ICCC, CiberCV, Barcelona, Spain
European Soc Cardiol, Biot, France
Bernal, LM:
Univ Nacl Abierta & Distancia, Escuela Ciencias Salud, Bogota, Colombia
Bogsrud, MP:
Oslo Univ Hosp, Dept Med Genet, Unit Cardiac & Cardiovasc Genet, Oslo, Norway
Oslo Univ Hosp, Dept Endocrinol Morbid Obes & Prevent Med, Norwegian Natl Advisory Unit Familial Hypercholes, Oslo, Norway
Braun, LT:
Rush Univ, Dept Adult Hlth & Gerontol Nursing, Chicago, IL 60612 USA
Brunham, L:
Univ British Columbia, St Pauls Hosp, Ctr Heart Lung Innovat, Vancouver, BC, Canada
Catapano, AL:
Univ Milan, Dept Pharmacol & Biomol Sci, Milan, Italy
Univ Milan, MultiMed Inst Res Hospitalizat & Hlth Care, Milan, Italy
European Atherosclerosis Soc, Gothenburg, Sweden
Cillikova, K:
Diagnoza FH, Plzen, Czech Republic
FH Europe, Maidenhead, Berks, England
Corral, P:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
FASTA Univ, Sch Med, Mar Del Plata, Argentina
Cuevas, R:
Pacientes Corazon, Mexico City, DF, Mexico
Defesche, JC:
Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
Descamps, OS:
FH Europe, Maidenhead, Berks, England
Ctr Hosp Jolimont, Haine St Paul, Belgium
Belchol, Brussels, Belgium
de Ferranti, S:
Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA
Boston Childrens Hosp, Dept Cardiol, Boston, MA USA
Eisele, JL:
World Heart Federat, Geneva, Switzerland
Elikir, G:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Soc Argentina Lipidos, Cordoba, Argentina
Folco, E:
Int Atherosclerosis Soc, Milan, Italy
Fdn Italiana Cuore, Italian Heart Fdn, Milan, Italy
Freiberger, T:
Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic
Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic
Masaryk Univ, Fac Med, Brno, Czech Republic
Fuggetta, F:
FH Europe, Maidenhead, Berks, England
Assoc Nazl Ipercolesterolemia Familiare, Rome, Italy
Gaspar, IM:
Univ Lisbon, Lisbon Med Sch, Ctr Hosp Lisboa Ocidental, Lisbon, Portugal
Univ Lisbon, Genet Lab, Dept Med Genet, Lisbon, Portugal
Gesztes, AG:
FH Europe, Maidenhead, Berks, England
FH Hungary Patient Org, Szivesen Segitunk Neked, Budapest, Hungary
Groselj, U:
Univ Childrens Hosp, Univ Med Ctr Ljubljana, Ljubljana, Slovenia
Hamilton-Craig, I:
Flinders Univ S Australia, Sch Med, Adelaide, SA, Australia
Hanauer-Mader, G:
FH Europe, Maidenhead, Berks, England
FHchol Austria, Vienna, Austria
Harada-Shiba, M:
Natl Cerebral & Cardiovasc Ctr Res Inst, Suita, Osaka, Japan
Hastings, G:
FH Europe, Maidenhead, Berks, England
Grp Italiano Pazienti Familial Hypercholesterolem, Milan, Italy
Hovingh, GK:
Univ Amsterdam, Dept Vasc Med, Med Ctr, Amsterdam, Netherlands
Izar, MC:
Univ Fed Sao Paulo, Sao Paulo, Brazil
Jamison, A:
Familial Hypercholesterolemia Fdn, 959 E Walnut St,Ste 220, Pasadena, CA 91106 USA
Karlsson, GN:
FH Europe, Maidenhead, Berks, England
FH Sverige, Uppsala, Sweden
Kayikcioglu, M:
FH Europe, Maidenhead, Berks, England
Ege Univ, Fac Med, Dept Cardiol, Izmir, Turkey
Assoc Familial Hypercholesterolemia, Bayrakli Izmir, Turkey
Koob, S:
Prevent Cardiovasc Nurses Assoc, Madison, WI USA
Koseki, M:
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka, Japan
Lane, S:
Familial Hypercholesterolemia Fdn, 959 E Walnut St,Ste 220, Pasadena, CA 91106 USA
Lima-Martinez, MM:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Univ Oriente, Dept Physiol Sci, Ciudad Bolivar, Venezuela
Endocrinol Diabet Metab & Nutr Unit, Ciudad Bolivar, Venezuela
Lopez, G:
Pontificia Univ Javeriana, Inst Genet Humana, Bogota, Colombia
Martinez, TL:
Sao Paulo Heart Inst, Sao Paulo, Brazil
Marais, D:
Univ Cape Town, Fac Hlth Sci, Div Chem Pathol, Cape Town, South Africa
Marion, L:
FH Europe, Maidenhead, Berks, England
Assoc Natl Hypercholesterolemies Familiales, Reims, France
Mata, P:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Fdn Hipercolesterolemia Familiar, Madrid, Spain
FH Europe, Maidenhead, Berks, England
Maurina, I:
FH Europe, Maidenhead, Berks, England
ParSirdilv Patient Soc, Riga, Latvia
Maxwell, D:
FH Europe, Maidenhead, Berks, England
Mehta, R:
Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Unidad Invest Enfermedades Metab, Mexico City, DF, Mexico
Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Endocrinol & Metab, Mexico City, DF, Mexico
Mensah, GA:
NHLBI, Ctr Translat Res & Implementat Sci, NIH, Bldg 10, Bethesda, MD 20892 USA
Miserez, AR:
Swiss FH Ctr, Diagene Res Inst, Reinach, Switzerland
Univ Basel, Fac Med, Basel, Switzerland
Neely, D:
Newcastle Upon Tyne Hosp NHS Fdn Trust, Dept Blood Sci, Newcastle Upon Tyne, Tyne & Wear, England
HEART UK, Reading, Berks, England
Nicholls, SJ:
Monash Univ, Monash Cardiovasc Res Ctr, Melbourne, Vic, Australia
Nohara, A:
Kanazawa Univ, Grad Sch Med, Dept Cardiovasc & Internal Med, Kanazawa, Ishikawa, Japan
Nordestgaard, BG:
Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, Copenhagen Gen Populat Study, Copenhagen, Denmark
Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark
Ose, L:
Oslo Univ Hosp, Dept Endocrinol Morbid Obes & Prevent Med, Lipid Clin, Oslo, Norway
Univ Oslo, Inst Basic Med Sci, Dept Nutr, Oslo, Norway
Pallidis, A:
FH Europe, Maidenhead, Berks, England
Assoc Familial Hypercholesterolemia, Ldl Greece, Greece
Pang, J:
Univ Western Australia, Sch Med, Fac Hlth & Med Sci, Perth, WA, Australia
Payne, J:
FH Europe, Maidenhead, Berks, England
HEART UK, Reading, Berks, England
Peterson, AL:
Univ Wisconsin, Dept Pediat, Sch Med & Publ Hlth, Madison, WI USA
Popescu, MP:
FH Europe, Maidenhead, Berks, England
Fundaia Pentru Ocrotirea Bolnavilor Cu Afectuni C, Bucharest, Romania
Puri, R:
Apollo Hosp, Dept Cardiol, New Delhi, India
Lipid Assoc India, New Delhi, India
Ray, KK:
Imperial Coll London, Dept Primary Care & Publ Hlth, Imperial Ctr Cardiovasc Dis Prevent, Sch Publ Hlth, London, England
Reda, A:
Menoufia Univ, Dept Cardiol, Shibin Al Kawm, Al Minufiyah, Egypt
Egyptian Assoc Vasc Biol & Atherosclerosis, Cairo, Egypt
Sampietro, T:
Fdn CRN Toscana Gabriele Monasterio, Lipoapheresis Unit, Reference Ctr Inherited Dyslipidemias, Pisa, Italy
Italian Assoc Inherited Dyslipidemias, Cascina Pisa, Italy
Santos, RD:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Int Atherosclerosis Soc, Milan, Italy
Univ Sao Paulo, Med Sch Hosp, Hosp Israelita Albert Einstein, Lipid Clin,Heart Inst, Sao Paulo, Brazil
Schalkers, I:
FH Europe, Maidenhead, Berks, England
Harteraad, The Hague, Netherlands
Schreier, L:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Univ Buenos Aires, Lab Lipidos Aterosclerosis, Dept Bioquim Clin, IndianaFIBIOC,Fac Farm & Bioquim, Buenos Aires, DF, Argentina
Shapiro, MD:
Familial Hypercholesterolemia Fdn, 959 E Walnut St,Ste 220, Pasadena, CA 91106 USA
Wake Forest Baptist Med Ctr, Sect Cardiovasc Med, Ctr Prevent Cardiol, Winston Salem, NC USA
Sijbrands, E:
Univ Med Ctr, Dept Internal Med, Erasmus MC, Rotterdam, Netherlands
Soffer, D:
Univ Penn Hlth Syst, Philadelphia, PA USA
Stefanutti, C:
Sapienza Univ Rome, Dept Mol Med, Rome, Italy
Umberto Hosp, Extracorporeal Therapeut Techn Unit, Lipid Clin, Reg Ctr Rare Metab Dis, Rome, Italy
Stoll, M:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
Honorary Commiss Cardiovasc Hlth, Montevideo, Uruguay
Sy, RG:
Univ Philippines, Philippine Gen Hosp, Dept Med, Manila, Philippines
Tamayo, ML:
Pontificia Univ Javeriana, Inst Genet Humana, Bogota, Colombia
Tilney, MK:
Univ Malta, Fac Med & Surg, Dept Med, Msida, Malta
Mater Dei Hosp, Lipid Clin, Msida, Malta
Tokgozoglu, L:
European Atherosclerosis Soc, Gothenburg, Sweden
Hacettepe Univ, Dept Cardiol Cardiol, Ankara, Turkey
Tomlinson, B:
Chinese Univ Hong Kong, Dept Med & Therapeut, Shatin, Hong Kong, Peoples R China
Vallejo-Vaz, AJ:
Imperial Coll London, Dept Primary Care & Publ Hlth, Imperial Ctr Cardiovasc Dis Prevent, Sch Publ Hlth, London, England
Vazquez-Cardenas, A:
Familial Hypercholesterolemia IberoAmericana Netw, Madrid, Spain
European Atherosclerosis Soc, Gothenburg, Sweden
Univ Autonoma Guadalajara, Fac Med, Zapopan, Jalisco, Mexico
Assoc Mexicana Hipercolesterolemia Familiar, Mexico City, DF, Mexico
de Luca, PV:
Assoc Brasileira Hipercolesterolemia Familia, Sao Paulo, Brazil
Wald, DS:
Queen Mary Univ London, Wolfson Inst Prevent Med, London, England
Watts, GF:
Univ Western Australia, Sch Med, Fac Hlth & Med Sci, Perth, WA, Australia
Royal Perth Hosp, Dept Cardiol, Lipid Disorders Clin, Perth, WA, Australia
Wenger, NK:
Emory Univ, Sch Med, Emory Womens Heart Ctr, Div Cardiol, Atlanta, GA USA
Wolf, M:
FASTA Univ, Sch Med, Mar Del Plata, Argentina
Patients Org Patients Familial Hypercholesterolae, Frankfurt, Germany
Wood, D:
World Heart Federat, Geneva, Switzerland
Zegerius, A:
Individuals Familial Hypercholesterolemia, The Hague, Netherlands
Gaziano, TA:
Soc Argentina Lipidos, Cordoba, Argentina
Brigham & Womens Hosp, Div Cardiovasc Med, 75 Francis St, Boston, MA 02115 USA
Harvard TH Chan Sch Publ Hlth, Dept Hlth Policy & Management, Boston, MA USA
Gidding, SS:
Familial Hypercholesterolemia Fdn, 959 E Walnut St,Ste 220, Pasadena, CA 91106 USA
Green Submitted
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