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

J 2020

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

WILEMON, K. A., J. PATEL, C. AGUILAR-SALINAS, C. D. AHMED, M. ALKHNIFSAWI et. al.

Basic information

Original name

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

Authors

WILEMON, K. A., J. PATEL, C. AGUILAR-SALINAS, C. D. AHMED, M. ALKHNIFSAWI, W. ALMAHMEED, R. ALONSO, K. AL-RASADI, L. BADIMON, L. M. BERNAL, M. P. BOGSRUD, L. T. BRAUN, L. BRUNHAM, A. L. CATAPANO, K. CILLIKOVA, P. CORRAL, R. CUEVAS, J. C. DEFESCHE, O. S. DESCAMPS, S. DE FERRANTI, J. L. EISELE, G. ELIKIR, E. FOLCO, Tomáš FREIBERGER (203 Czech Republic, belonging to the institution), F. FUGGETTA, I. M. GASPAR, A. G. GESZTES, U. GROSELJ, I. HAMILTON-CRAIG, G. HANAUER-MADER, M. HARADA-SHIBA, G. HASTINGS, G. K. HOVINGH, M. C. IZAR, A. JAMISON, G. N. KARLSSON, M. KAYIKCIOGLU, S. KOOB, M. KOSEKI, S. LANE, M. M. LIMA-MARTINEZ, G. LOPEZ, T. L. MARTINEZ, D. MARAIS, L. MARION, P. MATA, I. MAURINA, D. MAXWELL, R. MEHTA, G. A. MENSAH, A. R. MISEREZ, D. NEELY, S. J. NICHOLLS, A. NOHARA, B. G. NORDESTGAARD, L. OSE, A. PALLIDIS, J. PANG, J. PAYNE, A. L. PETERSON, M. P. POPESCU, R. PURI, K. K. RAY, A. REDA, T. SAMPIETRO, R. D. SANTOS, I. SCHALKERS, L. SCHREIER, M. D. SHAPIRO, E.. SIJBRANDS, D. SOFFER, C. STEFANUTTI, M. STOLL, R. G. SY, M. L. TAMAYO, M. K. TILNEY, L. TOKGOZOGLU, B. TOMLINSON, A. J. VALLEJO-VAZ, A. VAZQUEZ-CARDENAS, P. V. DE LUCA, D. S. WALD, G. F. WATTS, N. K. WENGER, M. WOLF, D. WOOD, A: ZEGERIUS, T. A. GAZIANO and S. S. GIDDING (guarantor)

Edition

JAMA Cardiology, Chicago, American Medical Association, 2020, 2380-6583

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30201 Cardiac and Cardiovascular systems

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 14.676

RIV identification code

RIV/00216224:14110/20:00116331

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1001/jamacardio.2019.5173

UT WoS

000526818400018

Keywords in English

Familial Hypercholesterolemia

Abstract

V originále

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.

Citovat

WILEMON, K. A., J. PATEL, C. AGUILAR-SALINAS, C. D. AHMED, M. ALKHNIFSAWI, W. ALMAHMEED, R. ALONSO, K. AL-RASADI, L. BADIMON, L. M. BERNAL, M. P. BOGSRUD, L. T. BRAUN, L. BRUNHAM, A. L. CATAPANO, K. CILLIKOVA, P. CORRAL, R. CUEVAS, J. C. DEFESCHE, O. S. DESCAMPS, S. DE FERRANTI, J. L. EISELE, G. ELIKIR, E. FOLCO, Tomáš FREIBERGER, F. FUGGETTA, I. M. GASPAR, A. G. GESZTES, U. GROSELJ, I. HAMILTON-CRAIG, G. HANAUER-MADER, M. HARADA-SHIBA, G. HASTINGS, G. K. HOVINGH, M. C. IZAR, A. JAMISON, G. N. KARLSSON, M. KAYIKCIOGLU, S. KOOB, M. KOSEKI, S. LANE, M. M. LIMA-MARTINEZ, G. LOPEZ, T. L. MARTINEZ, D. MARAIS, L. MARION, P. MATA, I. MAURINA, D. MAXWELL, R. MEHTA, G. A. MENSAH, A. R. MISEREZ, D. NEELY, S. J. NICHOLLS, A. NOHARA, B. G. NORDESTGAARD, L. OSE, A. PALLIDIS, J. PANG, J. PAYNE, A. L. PETERSON, M. P. POPESCU, R. PURI, K. K. RAY, A. REDA, T. SAMPIETRO, R. D. SANTOS, I. SCHALKERS, L. SCHREIER, M. D. SHAPIRO, E.. SIJBRANDS, D. SOFFER, C. STEFANUTTI, M. STOLL, R. G. SY, M. L. TAMAYO, M. K. TILNEY, L. TOKGOZOGLU, B. TOMLINSON, A. J. VALLEJO-VAZ, A. VAZQUEZ-CARDENAS, P. V. DE LUCA, D. S. WALD, G. F. WATTS, N. K. WENGER, M. WOLF, D. WOOD, A: ZEGERIUS, T. A. GAZIANO and S. S. GIDDING. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action. JAMA Cardiology. Chicago: American Medical Association, 2020, vol. 5, No 2, p. 217-229. ISSN 2380-6583. Available from: https://dx.doi.org/10.1001/jamacardio.2019.5173.

@article{1677118,
   author = {Wilemon, K. A. and Patel, J. and AguilarandSalinas, C. and Ahmed, C. D. and Alkhnifsawi, M. and Almahmeed, W. and Alonso, R. and AlandRasadi, K. and Badimon, L. and Bernal, L. M. and Bogsrud, M. P. and Braun, L. T. and Brunham, L. and Catapano, A. L. and Cillikova, K. and Corral, P. and Cuevas, R. and Defesche, J. C. and Descamps, O. S. and de Ferranti, S. and Eisele, J. L. and Elikir, G. and Folco, E. and Freiberger, Tomáš and Fuggetta, F. and Gaspar, I. M. and Gesztes, A. G. and Groselj, U. and HamiltonandCraig, I. and HanauerandMader, G. and HaradaandShiba, M. and Hastings, G. and Hovingh, G. K. and Izar, M. C. and Jamison, A. and Karlsson, G. N. and Kayikcioglu, M. and Koob, S. and Koseki, M. and Lane, S. and LimaandMartinez, M. M. and Lopez, G. and Martinez, T. L. and Marais, D. and Marion, L. and Mata, P. and Maurina, I. and Maxwell, D. and Mehta, R. and Mensah, G. A. and Miserez, A. R. and Neely, D. and Nicholls, S. J. and Nohara, A. and Nordestgaard, B. G. and Ose, L. and Pallidis, A. and Pang, J. and Payne, J. and Peterson, A. L. and Popescu, M. P. and Puri, R. and Ray, K. K. and Reda, A. and Sampietro, T. and Santos, R. D. and Schalkers, I. and Schreier, L. and Shapiro, M. D. and Sijbrands, E.. and Soffer, D. and Stefanutti, C. and Stoll, M. and Sy, R. G. and Tamayo, M. L. and Tilney, M. K. and Tokgozoglu, L. and Tomlinson, B. and VallejoandVaz, A. J. and VazquezandCardenas, A. and de Luca, P. V. and Wald, D. S. and Watts, G. F. and Wenger, N. K. and Wolf, M. and Wood, D. and Zegerius, A: and Gaziano, T. A. and Gidding, S. S.},
   article_location = {Chicago},
   article_number = {2},
   doi = {http://dx.doi.org/10.1001/jamacardio.2019.5173},
   keywords = {Familial Hypercholesterolemia},
   language = {eng},
   issn = {2380-6583},
   journal = {JAMA Cardiology},
   title = {Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action},
   url = {https://jamanetwork.com/journals/jamacardiology/fullarticle/2758279},
   volume = {5},
   year = {2020}
}

TY  - JOUR
ID  - 1677118
AU  - Wilemon, K. A. - Patel, J. - Aguilar-Salinas, C. - Ahmed, C. D. - Alkhnifsawi, M. - Almahmeed, W. - Alonso, R. - Al-Rasadi, K. - Badimon, L. - Bernal, L. M. - Bogsrud, M. P. - Braun, L. T. - Brunham, L. - Catapano, A. L. - Cillikova, K. - Corral, P. - Cuevas, R. - Defesche, J. C. - Descamps, O. S. - de Ferranti, S. - Eisele, J. L. - Elikir, G. - Folco, E. - Freiberger, Tomáš - Fuggetta, F. - Gaspar, I. M. - Gesztes, A. G. - Groselj, U. - Hamilton-Craig, I. - Hanauer-Mader, G. - Harada-Shiba, M. - Hastings, G. - Hovingh, G. K. - Izar, M. C. - Jamison, A. - Karlsson, G. N. - Kayikcioglu, M. - Koob, S. - Koseki, M. - Lane, S. - Lima-Martinez, M. M. - Lopez, G. - Martinez, T. L. - Marais, D. - Marion, L. - Mata, P. - Maurina, I. - Maxwell, D. - Mehta, R. - Mensah, G. A. - Miserez, A. R. - Neely, D. - Nicholls, S. J. - Nohara, A. - Nordestgaard, B. G. - Ose, L. - Pallidis, A. - Pang, J. - Payne, J. - Peterson, A. L. - Popescu, M. P. - Puri, R. - Ray, K. K. - Reda, A. - Sampietro, T. - Santos, R. D. - Schalkers, I. - Schreier, L. - Shapiro, M. D. - Sijbrands, E.. - Soffer, D. - Stefanutti, C. - Stoll, M. - Sy, R. G. - Tamayo, M. L. - Tilney, M. K. - Tokgozoglu, L. - Tomlinson, B. - Vallejo-Vaz, A. J. - Vazquez-Cardenas, A. - de Luca, P. V. - Wald, D. S. - Watts, G. F. - Wenger, N. K. - Wolf, M. - Wood, D. - Zegerius, A: - Gaziano, T. A. - Gidding, S. S.
PY  - 2020
TI  - Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
JF  - JAMA Cardiology
VL  - 5
IS  - 2
SP  - 217-229
EP  - 217-229
PB  - American Medical Association
SN  - 23806583
KW  - Familial Hypercholesterolemia
UR  - https://jamanetwork.com/journals/jamacardiology/fullarticle/2758279
L2  - https://jamanetwork.com/journals/jamacardiology/fullarticle/2758279
N2  - 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.
ER  -

WILEMON, K. A., J. PATEL, C. AGUILAR-SALINAS, C. D. AHMED, M. ALKHNIFSAWI, W. ALMAHMEED, R. ALONSO, K. AL-RASADI, L. BADIMON, L. M. BERNAL, M. P. BOGSRUD, L. T. BRAUN, L. BRUNHAM, A. L. CATAPANO, K. CILLIKOVA, P. CORRAL, R. CUEVAS, J. C. DEFESCHE, O. S. DESCAMPS, S. DE FERRANTI, J. L. EISELE, G. ELIKIR, E. FOLCO, Tomáš FREIBERGER, F. FUGGETTA, I. M. GASPAR, A. G. GESZTES, U. GROSELJ, I. HAMILTON-CRAIG, G. HANAUER-MADER, M. HARADA-SHIBA, G. HASTINGS, G. K. HOVINGH, M. C. IZAR, A. JAMISON, G. N. KARLSSON, M. KAYIKCIOGLU, S. KOOB, M. KOSEKI, S. LANE, M. M. LIMA-MARTINEZ, G. LOPEZ, T. L. MARTINEZ, D. MARAIS, L. MARION, P. MATA, I. MAURINA, D. MAXWELL, R. MEHTA, G. A. MENSAH, A. R. MISEREZ, D. NEELY, S. J. NICHOLLS, A. NOHARA, B. G. NORDESTGAARD, L. OSE, A. PALLIDIS, J. PANG, J. PAYNE, A. L. PETERSON, M. P. POPESCU, R. PURI, K. K. RAY, A. REDA, T. SAMPIETRO, R. D. SANTOS, I. SCHALKERS, L. SCHREIER, M. D. SHAPIRO, E.. SIJBRANDS, D. SOFFER, C. STEFANUTTI, M. STOLL, R. G. SY, M. L. TAMAYO, M. K. TILNEY, L. TOKGOZOGLU, B. TOMLINSON, A. J. VALLEJO-VAZ, A. VAZQUEZ-CARDENAS, P. V. DE LUCA, D. S. WALD, G. F. WATTS, N. K. WENGER, M. WOLF, D. WOOD, A: ZEGERIUS, T. A. GAZIANO and S. S. GIDDING. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action. \textit{JAMA Cardiology}. Chicago: American Medical Association, 2020, vol.~5, No~2, p.~217-229. ISSN~2380-6583. Available from: https://dx.doi.org/10.1001/jamacardio.2019.5173.

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