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.Základní údaje
Originální název
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Autoři
VALLEJO-VAZ, Antonio J. (garant), Christophe A. T. STEVENS, Alexander R. M. LYONS, Kanika I. DHARMAYAT, Tomáš FREIBERGER (203 Česká republika, domácí), 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 a Kausik K. RAY
Vydání
Lancet, New York, Elsevier Science Inc. 2021, 0140-6736
Další údaje
Jazyk
angličtina
Typ výsledku
Článek v odborném periodiku
Obor
30218 General and internal medicine
Stát vydavatele
Velká Británie a Severní Irsko
Utajení
není předmětem státního či obchodního tajemství
Odkazy
Impakt faktor
Impact factor: 202.731
Kód RIV
RIV/00216224:14110/21:00123980
Organizační jednotka
Lékařská fakulta
UT WoS
000715856000025
Klíčová slova anglicky
familial hypercholesterolaemia; global perspective
Příznaky
Mezinárodní význam, Recenzováno
Změněno: 29. 3. 2022 12:43, Mgr. Tereza Miškechová
Anotace
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.