2023 Update on European Atherosclerosis Society Consensus
Statement on Homozygous Familial Hypercholesterolaemia: new
treatments and clinical guidance

J 2023

2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

CUCHEL, Marina; Frederick J RAAL; Robert A HEGELE; Khalid AL-RASADI; Marcello ARCA et al.

Základní údaje

Originální název

2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

Autoři

Vydání

European heart journal, Oxford, Oxford University Press, 2023, 0195-668X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30201 Cardiac and Cardiovascular systems

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 38.100

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/23:00131700

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Homozygous familial hypercholesterolaemia; Clinical guidance; Diagnosis; Genetics; Treatment; Women

Štítky

14110114, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 15. 9. 2023 07:56, Mgr. Tereza Miškechová

Anotace

V originále

This 2023 statement updates clinical guidance for homozygous familial hypercholesterolaemia (HoFH), explains the genetic complexity, and provides pragmatic recommendations to address inequities in HoFH care worldwide. Key strengths include updated criteria for the clinical diagnosis of HoFH and the recommendation to prioritize phenotypic features over genotype. Thus, a low-density lipoprotein cholesterol (LDL-C) >10 mmol/L (>400 mg/dL) is suggestive of HoFH and warrants further evaluation. The statement also provides state-of-the art discussion and guidance to clinicians for interpreting the results of genetic testing and for family planning and pregnancy. Therapeutic decisions are based on the LDL-C level. Combination LDL-C-lowering therapy-both pharmacologic intervention and lipoprotein apheresis (LA)-is foundational. Addition of novel, efficacious therapies (i.e. inhibitors of proprotein convertase subtilisin/kexin type 9, followed by evinacumab and/or lomitapide) offers potential to attain LDL-C goal or reduce the need for LA. To improve HoFH care around the world, the statement recommends the creation of national screening programmes, education to improve awareness, and management guidelines that account for the local realities of care, including access to specialist centres, treatments, and cost. This updated statement provides guidance that is crucial to early diagnosis, better care, and improved cardiovascular health for patients with HoFH worldwide.

Návaznosti

LX22NPO5104, projekt VaV

Název: Národní institut pro výzkum metabolických a kardiovaskulárních onemocnění (Akronym: CarDia)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní institut pro léčbu metabolických a kardiovaskulárních onemocnění, 5.1 EXCELES

Přiložené soubory

2023_Update_on_European_Atherosclerosis_Society_Consensus_Statement_on_Homozygous_Familial_Hypercholesterolaemia_new_treatments_and_clinical_guidance.pdf

Citovat

CUCHEL, Marina; Frederick J RAAL; Robert A HEGELE; Khalid AL-RASADI; Marcello ARCA; Maurizio AVERNA; Eric BRUCKERT; Tomáš FREIBERGER; Daniel GAUDET; Mariko HARADA-SHIBA; Lisa C HUDGINS; Meral KAYIKCIOGLU; Luis MASANA; Klaus G PARHOFER; Jeanine E ROETERS VAN LENNEP; Raul D SANTOS; Erik S G STROES; Gerald F WATTS; Albert WIEGMAN; Jane K STOCK; Lale S TOKGOEZOGLU; Alberico L CATAPANO a Kausik K RAY. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. European heart journal. Oxford: Oxford University Press, 2023, roč. 44, č. 25, s. 2277-2291. ISSN 0195-668X. Dostupné z: https://doi.org/10.1093/eurheartj/ehad197.

@article{2311397,
   author = {Cuchel, Marina and Raal, Frederick J and Hegele, Robert A and AlandRasadi, Khalid and Arca, Marcello and Averna, Maurizio and Bruckert, Eric and Freiberger, Tomáš and Gaudet, Daniel and HaradaandShiba, Mariko and Hudgins, Lisa C and Kayikcioglu, Meral and Masana, Luis and Parhofer, Klaus G and Roeters van Lennep, Jeanine E and Santos, Raul D and Stroes, Erik S G and Watts, Gerald F and Wiegman, Albert and Stock, Jane K and Tokgoezoglu, Lale S and Catapano, Alberico L and Ray, Kausik K},
   article_location = {Oxford},
   article_number = {25},
   doi = {https://doi.org/10.1093/eurheartj/ehad197},
   keywords = {Homozygous familial hypercholesterolaemia; Clinical guidance; Diagnosis; Genetics; Treatment; Women},
   language = {eng},
   issn = {0195-668X},
   journal = {European heart journal},
   title = {2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance},
   url = {https://academic.oup.com/eurheartj/article/44/25/2277/7148157?login=true},
   volume = {44},
   year = {2023}
}

TY  - JOUR
ID  - 2311397
AU  - Cuchel, Marina - Raal, Frederick J - Hegele, Robert A - Al-Rasadi, Khalid - Arca, Marcello - Averna, Maurizio - Bruckert, Eric - Freiberger, Tomáš - Gaudet, Daniel - Harada-Shiba, Mariko - Hudgins, Lisa C - Kayikcioglu, Meral - Masana, Luis - Parhofer, Klaus G - Roeters van Lennep, Jeanine E - Santos, Raul D - Stroes, Erik S G - Watts, Gerald F - Wiegman, Albert - Stock, Jane K - Tokgoezoglu, Lale S - Catapano, Alberico L - Ray, Kausik K
PY  - 2023
TI  - 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance
JF  - European heart journal
VL  - 44
IS  - 25
SP  - 2277-2291
EP  - 2277-2291
PB  - Oxford University Press
SN  - 0195668X
KW  - Homozygous familial hypercholesterolaemia
KW  - Clinical guidance
KW  - Diagnosis
KW  - Genetics
KW  - Treatment
KW  - Women
UR  - https://academic.oup.com/eurheartj/article/44/25/2277/7148157?login=true
N2  - This 2023 statement updates clinical guidance for homozygous familial hypercholesterolaemia (HoFH), explains the genetic complexity, and provides pragmatic recommendations to address inequities in HoFH care worldwide. Key strengths include updated criteria for the clinical diagnosis of HoFH and the recommendation to prioritize phenotypic features over genotype. Thus, a low-density lipoprotein cholesterol (LDL-C) >10 mmol/L (>400 mg/dL) is suggestive of HoFH and warrants further evaluation. The statement also provides state-of-the art discussion and guidance to clinicians for interpreting the results of genetic testing and for family planning and pregnancy. Therapeutic decisions are based on the LDL-C level. Combination LDL-C-lowering therapy-both pharmacologic intervention and lipoprotein apheresis (LA)-is foundational. Addition of novel, efficacious therapies (i.e. inhibitors of proprotein convertase subtilisin/kexin type 9, followed by evinacumab and/or lomitapide) offers potential to attain LDL-C goal or reduce the need for LA. To improve HoFH care around the world, the statement recommends the creation of national screening programmes, education to improve awareness, and management guidelines that account for the local realities of care, including access to specialist centres, treatments, and cost. This updated statement provides guidance that is crucial to early diagnosis, better care, and improved cardiovascular health for patients with HoFH worldwide.
ER  -

CUCHEL, Marina; Frederick J RAAL; Robert A HEGELE; Khalid AL-RASADI; Marcello ARCA; Maurizio AVERNA; Eric BRUCKERT; Tomáš FREIBERGER; Daniel GAUDET; Mariko HARADA-SHIBA; Lisa C HUDGINS; Meral KAYIKCIOGLU; Luis MASANA; Klaus G PARHOFER; Jeanine E ROETERS VAN LENNEP; Raul D SANTOS; Erik S G STROES; Gerald F WATTS; Albert WIEGMAN; Jane K STOCK; Lale S TOKGOEZOGLU; Alberico L CATAPANO a Kausik K RAY. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. \textit{European heart journal}. Oxford: Oxford University Press, 2023, roč.~44, č.~25, s.~2277-2291. ISSN~0195-668X. Dostupné z: https://doi.org/10.1093/eurheartj/ehad197.

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