Worldwide experience of homozygous familial
hypercholesterolaemia: retrospective cohort study

J 2022

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

TROMP, Tycho R, Merel L. HARTGERS, G Kees HOVINGH, Antonio J. VALLEJO-VAZ, Kausik K. RAY et. al.

Základní údaje

Originální název

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Autoři

TROMP, Tycho R, Merel L. HARTGERS, G Kees HOVINGH, Antonio J. VALLEJO-VAZ, Kausik K. RAY, Handrean SORAN, Tomáš FREIBERGER (203 Česká republika, domácí), Stefano BERTOLINI, Mariko HARADA-SHIBA, Dirk J. BLOM, Frederick J. RAAL a Marina CUCHEL (garant)

Vydání

Lancet, New York, Elsevier Science Inc. 2022, 0140-6736

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30218 General and internal medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 168.900

Kód RIV

RIV/00216224:14110/22:00126417

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/S0140-6736(21)02001-8

UT WoS

000758794200019

Klíčová slova anglicky

homozygous familial hypercholesterolaemia

Štítky

14110114, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 11. 8. 2022 12:52, Mgr. Tereza Miškechová

Anotace

V originále

Background Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally. Methods The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005. Findings Overall, 751 patients from 38 countries were included, with 565 (75%) reporting biallelic pathogenic variants. The median age of diagnosis was 12.0 years (IQR 5.5-27.0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male. Race was reported for 527 patients; 338 ( 64%) patients were White, 121 (23%) were Asian, and 68 (13%) were Black or mixed race. The major manifestations of ASCVD or aortic stenosis were already present in 65 (9%) of patients at diagnosis of HoFH. Globally, pretreatment LDL cholesterol levels were 14.7 mmol/L (IQR 11.6-18.4). Among patients with detailed therapeutic information, 491 (92%) of 534 received statins, 342 (64%) of 534 received ezetimibe, and 243 (39%) of 621 received lipoprotein apheresis. On-treatment LDL cholesterol levels were lower in high-income countries (3.93 mmol/ L, IQR 2.6-5.8) versus non-highincome countries (9.3 mmol/ L, 6.7-12.7), with greater use of three or more lipid-lowering therapies (LLT; highincome 66% vs non-high-income 24%) and consequently more patients attaining guideline-recommended LDL cholesterol goals (high- income 21% vs non-high- income 3%). A first major adverse cardiovascular event occurred a decade earlier in non-high-income countries, at a median age of 24.5 years (IQR 17.0-34.5) versus 37.0 years (29.0-49.0) in high-income countries (adjusted hazard ratio 1.64, 95% CI 1.13-2.38). Interpretation Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH. Copyright (C) 2022 Published by Elsevier Ltd. All rights reserved.

Citovat

TROMP, Tycho R, Merel L. HARTGERS, G Kees HOVINGH, Antonio J. VALLEJO-VAZ, Kausik K. RAY, Handrean SORAN, Tomáš FREIBERGER, Stefano BERTOLINI, Mariko HARADA-SHIBA, Dirk J. BLOM, Frederick J. RAAL a Marina CUCHEL. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. New York: Elsevier Science Inc., 2022, roč. 399, č. 10326, s. 719-728. ISSN 0140-6736. Dostupné z: https://dx.doi.org/10.1016/S0140-6736(21)02001-8.

@article{2211024,
   author = {Tromp, Tycho R and Hartgers, Merel L. and Hovingh, G Kees and VallejoandVaz, Antonio J. and Ray, Kausik K. and Soran, Handrean and Freiberger, Tomáš and Bertolini, Stefano and HaradaandShiba, Mariko and Blom, Dirk J. and Raal, Frederick J. and Cuchel, Marina},
   article_location = {New York},
   article_number = {10326},
   doi = {http://dx.doi.org/10.1016/S0140-6736(21)02001-8},
   keywords = {homozygous familial hypercholesterolaemia},
   language = {eng},
   issn = {0140-6736},
   journal = {Lancet},
   title = {Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study},
   url = {https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)02001-8/fulltext#%20},
   volume = {399},
   year = {2022}
}

TY  - JOUR
ID  - 2211024
AU  - Tromp, Tycho R - Hartgers, Merel L. - Hovingh, G Kees - Vallejo-Vaz, Antonio J. - Ray, Kausik K. - Soran, Handrean - Freiberger, Tomáš - Bertolini, Stefano - Harada-Shiba, Mariko - Blom, Dirk J. - Raal, Frederick J. - Cuchel, Marina
PY  - 2022
TI  - Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
JF  - Lancet
VL  - 399
IS  - 10326
SP  - 719-728
EP  - 719-728
PB  - Elsevier Science Inc.
SN  - 01406736
KW  - homozygous familial hypercholesterolaemia
UR  - https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)02001-8/fulltext#%20
N2  - Background Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally. Methods The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005. Findings Overall, 751 patients from 38 countries were included, with 565 (75%) reporting biallelic pathogenic variants. The median age of diagnosis was 12.0 years (IQR 5.5-27.0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male. Race was reported for 527 patients; 338 ( 64%) patients were White, 121 (23%) were Asian, and 68 (13%) were Black or mixed race. The major manifestations of ASCVD or aortic stenosis were already present in 65 (9%) of patients at diagnosis of HoFH. Globally, pretreatment LDL cholesterol levels were 14.7 mmol/L (IQR 11.6-18.4). Among patients with detailed therapeutic information, 491 (92%) of 534 received statins, 342 (64%) of 534 received ezetimibe, and 243 (39%) of 621 received lipoprotein apheresis. On-treatment LDL cholesterol levels were lower in high-income countries (3.93 mmol/ L, IQR 2.6-5.8) versus non-highincome countries (9.3 mmol/ L, 6.7-12.7), with greater use of three or more lipid-lowering therapies (LLT; highincome 66% vs non-high-income 24%) and consequently more patients attaining guideline-recommended LDL cholesterol goals (high- income 21% vs non-high- income 3%). A first major adverse cardiovascular event occurred a decade earlier in non-high-income countries, at a median age of 24.5 years (IQR 17.0-34.5) versus 37.0 years (29.0-49.0) in high-income countries (adjusted hazard ratio 1.64, 95% CI 1.13-2.38). Interpretation Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH. Copyright (C) 2022 Published by Elsevier Ltd. All rights reserved.
ER  -

TROMP, Tycho R, Merel L. HARTGERS, G Kees HOVINGH, Antonio J. VALLEJO-VAZ, Kausik K. RAY, Handrean SORAN, Tomáš FREIBERGER, Stefano BERTOLINI, Mariko HARADA-SHIBA, Dirk J. BLOM, Frederick J. RAAL a Marina CUCHEL. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. \textit{Lancet}. New York: Elsevier Science Inc., 2022, roč.~399, č.~10326, s.~719-728. ISSN~0140-6736. Dostupné z: https://dx.doi.org/10.1016/S0140-6736(21)02001-8.

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