Global perspective of familial hypercholesterolaemia: a
cross-sectional study from the EAS Familial
Hypercholesterolaemia Studies Collaboration (FHSC)

J 2021

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

VALLEJO-VAZ, Antonio J., Christophe A. T. STEVENS, Alexander R. M. LYONS, Kanika I. DHARMAYAT, Tomáš FREIBERGER et. al.

Basic information

Original name

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Authors

VALLEJO-VAZ, Antonio J. (guarantor), Christophe A. T. STEVENS, Alexander R. M. LYONS, Kanika I. DHARMAYAT, Tomáš FREIBERGER (203 Czech Republic, belonging to the institution), G Kees HOVINGH, Pedro MATA, Frederick J. RAAL, Raul D. SANTOS, Handrean SORAN, Gerald F. WATTS, Marianne ABIFADEL, Carlos A. AGUILAR-SALINAS, Khalid F. ALHABIB, Mutaz ALKHNIFSAWI, Wael ALMAHMEED, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Ahmad AL-SARRAF, Nasreen AL-SAYED, Francisco ARAUJO, Tester F. ASHAVAID, Maciej BANACH, Sophie BÉLIARD, Marianne BENN, Christoph J. BINDER, Martin P. BOGSRUD, Mafalda BOURBON, Krzysztof CHLEBUS, Pablo CORRAL, Kairat DAVLETOV, Olivier S. DESCAMPS, Ronen DURST, Marat EZHOV, Dan GAITA, Jacques GENEST, Urh GROSELJ, Mariko HARADA-SHIBA, Kirsten B HOLVEN, Meral KAYIKCIOGLU, Weerapan KHOVIDHUNKIT, Katarina LALIC, Gustavs LATKOVSKIS, Ulrich LAUFS, Evangelos LIBEROPOULOS, Marcos M. LIMA-MARTINEZ, Jie LIN, Vincent MAHER, David MARAIS, Winfried MÄRZ, Erkin MIRRAKHIMOV, André R. MISEREZ, Olena MITCHENKO, Hapizah NAWAWI, Børge G. NORDESTGAARD, Andrie G. PANAYIOTOU, György PARAGH, Zaneta PETRULIONIENE, Belma POJSKIC, Arman POSTADZHIYAN, Katarina RASLOVA, Ashraf REDA, Željko REINER, Fouzia SADIQ, Wilson Ehidiamen SADOH, Heribert SCHUNKERT, Aleksandr B. SHEK, Mario STOLL, Erik STROES, Ta-Chen SU, Tavintharan SUBRAMANIAM, Andrey V. SUSEKOV, Myra TILNEY, Brian TOMLINSON, Thanh Huong TRUONG, Alexandros D. TSELEPIS, Anne TYBJÆRG-HANSEN, Alejandra Vázquez CÁRDENAS, Margus VIIGIMAA, Luya WANG, Shizuya YAMASHITA, Lale TOKGOZOGLU, Alberico L. CATAPANO and Kausik K. RAY

Edition

Lancet, New York, Elsevier Science Inc. 2021, 0140-6736

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30218 General and internal medicine

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 202.731

RIV identification code

RIV/00216224:14110/21:00123980

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/S0140-6736(21)01122-3

UT WoS

000715856000025

Keywords in English

familial hypercholesterolaemia; global perspective

Abstract

V originále

Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Data were assessed overall and by WHO regions, sex, and index versus non-index cases. Findings Of the 61 612 individuals in the registry, 42 167 adults (21 999 [53.6%] women) from 56 countries were included in the study. Of these, 31 798 (75.4%) were diagnosed with the Dutch Lipid Clinic Network criteria, and 35 490 (84.2%) were from the WHO region of Europe. Median age of participants at entry in the registry was 46.2 years (IQR 34.3-58.0); median age at diagnosis of familial hypercholesterolaemia was 44.4 years (32.5-56.5), with 40.2% of participants younger than 40 years when diagnosed. Prevalence of cardiovascular risk factors increased progressively with age and varied by WHO region. Prevalence of coronary disease was 17.4% (2.1% for stroke and 5.2% for peripheral artery disease), increasing with concentrations of untreated LDL cholesterol, and was about two times lower in women than in men. Among patients receiving lipid-lowering medications, 16 803 (81.1%) were receiving statins and 3691 (21.2%) were on combination therapy, with greater use of more potent lipid-lowering medication in men than in women. Median LDL cholesterol was 5.43 mmol/L (IQR 4.32-6.72) among patients not taking lipid-lowering medications and 4.23 mmol/L (3.20-5.66) among those taking them. Among patients taking lipid-lowering medications, 2.7% had LDL cholesterol lower than 1.8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin-kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1.8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p<0.001). Interpretation Familial hypercholesterolaemia is diagnosed late. Guideline-recommended LDL cholesterol concentrations are infrequently achieved with single-drug therapy. Cardiovascular risk factors and presence of coronary disease were lower among non-index cases, who were diagnosed earlier. Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia. Copyright (C) 2021 Elsevier Ltd. All rights reserved.

Citovat

VALLEJO-VAZ, Antonio J., Christophe A. T. STEVENS, Alexander R. M. LYONS, Kanika I. DHARMAYAT, Tomáš FREIBERGER, G Kees HOVINGH, Pedro MATA, Frederick J. RAAL, Raul D. SANTOS, Handrean SORAN, Gerald F. WATTS, Marianne ABIFADEL, Carlos A. AGUILAR-SALINAS, Khalid F. ALHABIB, Mutaz ALKHNIFSAWI, Wael ALMAHMEED, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Ahmad AL-SARRAF, Nasreen AL-SAYED, Francisco ARAUJO, Tester F. ASHAVAID, Maciej BANACH, Sophie BÉLIARD, Marianne BENN, Christoph J. BINDER, Martin P. BOGSRUD, Mafalda BOURBON, Krzysztof CHLEBUS, Pablo CORRAL, Kairat DAVLETOV, Olivier S. DESCAMPS, Ronen DURST, Marat EZHOV, Dan GAITA, Jacques GENEST, Urh GROSELJ, Mariko HARADA-SHIBA, Kirsten B HOLVEN, Meral KAYIKCIOGLU, Weerapan KHOVIDHUNKIT, Katarina LALIC, Gustavs LATKOVSKIS, Ulrich LAUFS, Evangelos LIBEROPOULOS, Marcos M. LIMA-MARTINEZ, Jie LIN, Vincent MAHER, David MARAIS, Winfried MÄRZ, Erkin MIRRAKHIMOV, André R. MISEREZ, Olena MITCHENKO, Hapizah NAWAWI, Børge G. NORDESTGAARD, Andrie G. PANAYIOTOU, György PARAGH, Zaneta PETRULIONIENE, Belma POJSKIC, Arman POSTADZHIYAN, Katarina RASLOVA, Ashraf REDA, Željko REINER, Fouzia SADIQ, Wilson Ehidiamen SADOH, Heribert SCHUNKERT, Aleksandr B. SHEK, Mario STOLL, Erik STROES, Ta-Chen SU, Tavintharan SUBRAMANIAM, Andrey V. SUSEKOV, Myra TILNEY, Brian TOMLINSON, Thanh Huong TRUONG, Alexandros D. TSELEPIS, Anne TYBJÆRG-HANSEN, Alejandra Vázquez CÁRDENAS, Margus VIIGIMAA, Luya WANG, Shizuya YAMASHITA, Lale TOKGOZOGLU, Alberico L. CATAPANO and Kausik K. RAY. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. New York: Elsevier Science Inc., 2021, vol. 398, No 10312, p. 1713-1725. ISSN 0140-6736. Available from: https://dx.doi.org/10.1016/S0140-6736(21)01122-3.

@article{1828123,
   author = {VallejoandVaz, Antonio J. and Stevens, Christophe A. T. and Lyons, Alexander R. M. and Dharmayat, Kanika I. and Freiberger, Tomáš and Hovingh, G Kees and Mata, Pedro and Raal, Frederick J. and Santos, Raul D. and Soran, Handrean and Watts, Gerald F. and Abifadel, Marianne and AguilarandSalinas, Carlos A. and Alhabib, Khalid F. and Alkhnifsawi, Mutaz and Almahmeed, Wael and Alnouri, Fahad and Alonso, Rodrigo and AlandRasadi, Khalid and AlandSarraf, Ahmad and AlandSayed, Nasreen and Araujo, Francisco and Ashavaid, Tester F. and Banach, Maciej and Béliard, Sophie and Benn, Marianne and Binder, Christoph J. and Bogsrud, Martin P. and Bourbon, Mafalda and Chlebus, Krzysztof and Corral, Pablo and Davletov, Kairat and Descamps, Olivier S. and Durst, Ronen and Ezhov, Marat and Gaita, Dan and Genest, Jacques and Groselj, Urh and HaradaandShiba, Mariko and Holven, Kirsten B and Kayikcioglu, Meral and Khovidhunkit, Weerapan and Lalic, Katarina and Latkovskis, Gustavs and Laufs, Ulrich and Liberopoulos, Evangelos and LimaandMartinez, Marcos M. and Lin, Jie and Maher, Vincent and Marais, David and März, Winfried and Mirrakhimov, Erkin and Miserez, André R. and Mitchenko, Olena and Nawawi, Hapizah and Nordestgaard, Børge G. and Panayiotou, Andrie G. and Paragh, György and Petrulioniene, Zaneta and Pojskic, Belma and Postadzhiyan, Arman and Raslova, Katarina and Reda, Ashraf and Reiner, Željko and Sadiq, Fouzia and Sadoh, Wilson Ehidiamen and Schunkert, Heribert and Shek, Aleksandr B. and Stoll, Mario and Stroes, Erik and Su, TaandChen and Subramaniam, Tavintharan and Susekov, Andrey V. and Tilney, Myra and Tomlinson, Brian and Truong, Thanh Huong and Tselepis, Alexandros D. and TybjærgandHansen, Anne and Cárdenas, Alejandra Vázquez and Viigimaa, Margus and Wang, Luya and Yamashita, Shizuya and Tokgozoglu, Lale and Catapano, Alberico L. and Ray, Kausik K.},
   article_location = {New York},
   article_number = {10312},
   doi = {http://dx.doi.org/10.1016/S0140-6736(21)01122-3},
   keywords = {familial hypercholesterolaemia; global perspective},
   language = {eng},
   issn = {0140-6736},
   journal = {Lancet},
   title = {Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)},
   url = {https://www.sciencedirect.com/science/article/pii/S0140673621011223?via%3Dihub},
   volume = {398},
   year = {2021}
}

TY  - JOUR
ID  - 1828123
AU  - Vallejo-Vaz, Antonio J. - Stevens, Christophe A. T. - Lyons, Alexander R. M. - Dharmayat, Kanika I. - Freiberger, Tomáš - Hovingh, G Kees - Mata, Pedro - Raal, Frederick J. - Santos, Raul D. - Soran, Handrean - Watts, Gerald F. - Abifadel, Marianne - Aguilar-Salinas, Carlos A. - Alhabib, Khalid F. - Alkhnifsawi, Mutaz - Almahmeed, Wael - Alnouri, Fahad - Alonso, Rodrigo - Al-Rasadi, Khalid - Al-Sarraf, Ahmad - Al-Sayed, Nasreen - Araujo, Francisco - Ashavaid, Tester F. - Banach, Maciej - Béliard, Sophie - Benn, Marianne - Binder, Christoph J. - Bogsrud, Martin P. - Bourbon, Mafalda - Chlebus, Krzysztof - Corral, Pablo - Davletov, Kairat - Descamps, Olivier S. - Durst, Ronen - Ezhov, Marat - Gaita, Dan - Genest, Jacques - Groselj, Urh - Harada-Shiba, Mariko - Holven, Kirsten B - Kayikcioglu, Meral - Khovidhunkit, Weerapan - Lalic, Katarina - Latkovskis, Gustavs - Laufs, Ulrich - Liberopoulos, Evangelos - Lima-Martinez, Marcos M. - Lin, Jie - Maher, Vincent - Marais, David - März, Winfried - Mirrakhimov, Erkin - Miserez, André R. - Mitchenko, Olena - Nawawi, Hapizah - Nordestgaard, Børge G. - Panayiotou, Andrie G. - Paragh, György - Petrulioniene, Zaneta - Pojskic, Belma - Postadzhiyan, Arman - Raslova, Katarina - Reda, Ashraf - Reiner, Željko - Sadiq, Fouzia - Sadoh, Wilson Ehidiamen - Schunkert, Heribert - Shek, Aleksandr B. - Stoll, Mario - Stroes, Erik - Su, Ta-Chen - Subramaniam, Tavintharan - Susekov, Andrey V. - Tilney, Myra - Tomlinson, Brian - Truong, Thanh Huong - Tselepis, Alexandros D. - Tybjærg-Hansen, Anne - Cárdenas, Alejandra Vázquez - Viigimaa, Margus - Wang, Luya - Yamashita, Shizuya - Tokgozoglu, Lale - Catapano, Alberico L. - Ray, Kausik K.
PY  - 2021
TI  - Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
JF  - Lancet
VL  - 398
IS  - 10312
SP  - 1713-1725
EP  - 1713-1725
PB  - Elsevier Science Inc.
SN  - 01406736
KW  - familial hypercholesterolaemia
KW  - global perspective
UR  - https://www.sciencedirect.com/science/article/pii/S0140673621011223?via%3Dihub
N2  - Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Data were assessed overall and by WHO regions, sex, and index versus non-index cases. Findings Of the 61 612 individuals in the registry, 42 167 adults (21 999 [53.6%] women) from 56 countries were included in the study. Of these, 31 798 (75.4%) were diagnosed with the Dutch Lipid Clinic Network criteria, and 35 490 (84.2%) were from the WHO region of Europe. Median age of participants at entry in the registry was 46.2 years (IQR 34.3-58.0); median age at diagnosis of familial hypercholesterolaemia was 44.4 years (32.5-56.5), with 40.2% of participants younger than 40 years when diagnosed. Prevalence of cardiovascular risk factors increased progressively with age and varied by WHO region. Prevalence of coronary disease was 17.4% (2.1% for stroke and 5.2% for peripheral artery disease), increasing with concentrations of untreated LDL cholesterol, and was about two times lower in women than in men. Among patients receiving lipid-lowering medications, 16 803 (81.1%) were receiving statins and 3691 (21.2%) were on combination therapy, with greater use of more potent lipid-lowering medication in men than in women. Median LDL cholesterol was 5.43 mmol/L (IQR 4.32-6.72) among patients not taking lipid-lowering medications and 4.23 mmol/L (3.20-5.66) among those taking them. Among patients taking lipid-lowering medications, 2.7% had LDL cholesterol lower than 1.8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin-kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1.8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p<0.001). Interpretation Familial hypercholesterolaemia is diagnosed late. Guideline-recommended LDL cholesterol concentrations are infrequently achieved with single-drug therapy. Cardiovascular risk factors and presence of coronary disease were lower among non-index cases, who were diagnosed earlier. Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia. Copyright (C) 2021 Elsevier Ltd. All rights reserved.
ER  -

VALLEJO-VAZ, Antonio J., Christophe A. T. STEVENS, Alexander R. M. LYONS, Kanika I. DHARMAYAT, Tomáš FREIBERGER, G Kees HOVINGH, Pedro MATA, Frederick J. RAAL, Raul D. SANTOS, Handrean SORAN, Gerald F. WATTS, Marianne ABIFADEL, Carlos A. AGUILAR-SALINAS, Khalid F. ALHABIB, Mutaz ALKHNIFSAWI, Wael ALMAHMEED, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Ahmad AL-SARRAF, Nasreen AL-SAYED, Francisco ARAUJO, Tester F. ASHAVAID, Maciej BANACH, Sophie BÉLIARD, Marianne BENN, Christoph J. BINDER, Martin P. BOGSRUD, Mafalda BOURBON, Krzysztof CHLEBUS, Pablo CORRAL, Kairat DAVLETOV, Olivier S. DESCAMPS, Ronen DURST, Marat EZHOV, Dan GAITA, Jacques GENEST, Urh GROSELJ, Mariko HARADA-SHIBA, Kirsten B HOLVEN, Meral KAYIKCIOGLU, Weerapan KHOVIDHUNKIT, Katarina LALIC, Gustavs LATKOVSKIS, Ulrich LAUFS, Evangelos LIBEROPOULOS, Marcos M. LIMA-MARTINEZ, Jie LIN, Vincent MAHER, David MARAIS, Winfried MÄRZ, Erkin MIRRAKHIMOV, André R. MISEREZ, Olena MITCHENKO, Hapizah NAWAWI, Børge G. NORDESTGAARD, Andrie G. PANAYIOTOU, György PARAGH, Zaneta PETRULIONIENE, Belma POJSKIC, Arman POSTADZHIYAN, Katarina RASLOVA, Ashraf REDA, Željko REINER, Fouzia SADIQ, Wilson Ehidiamen SADOH, Heribert SCHUNKERT, Aleksandr B. SHEK, Mario STOLL, Erik STROES, Ta-Chen SU, Tavintharan SUBRAMANIAM, Andrey V. SUSEKOV, Myra TILNEY, Brian TOMLINSON, Thanh Huong TRUONG, Alexandros D. TSELEPIS, Anne TYBJÆRG-HANSEN, Alejandra Vázquez CÁRDENAS, Margus VIIGIMAA, Luya WANG, Shizuya YAMASHITA, Lale TOKGOZOGLU, Alberico L. CATAPANO and Kausik K. RAY. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). \textit{Lancet}. New York: Elsevier Science Inc., 2021, vol.~398, No~10312, p.~1713-1725. ISSN~0140-6736. Available from: https://dx.doi.org/10.1016/S0140-6736(21)01122-3.

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