Publications issues du registre REFERCHOL - Nouvelle Société Francophone d'Athérosclérose

Referchol

Le REgistre Français des hypERCHOLestérolémies familiales (REFERCHOL) soutenu par la NSFA a permis de générer plusieurs publications scientifiques dans des journaux internationaux à comité de lecture depuis 2016:

Cascade screening in familial hypercholesterolaemia is associated with earlier statin initiation and fewer cardiovascular events than opportunistic screening.
Mourre F, Giorgi R, Cattieuw L, Gallo A, Moulin P, Charrière S, Aouchiche K, Rigalleau V, Schiele F, Sultan A, Tounian P, Valéro R, Béliard S; REFERCHOL investigators.
Eur J Prev Cardiol. 2025. Sous presse
doi: 10.1093/eurjpc/zwaf234.
PMID: 40326712

The singular French PCSK9-p.Ser127Arg gain-of-function variant: a significant player in cholesterol levels from a 775-year-old common ancestor.
Yara Azar, Thomas E. Ludwig , Hugo Le Bon, Thea Bismo Strøm, Olivier Bluteau, Mathilde Di-Filippo, Alain Carrié, Hedi Chtioui, Sophie Béliard, Oriane Marmontel, Annie Fonteille, Maite Gebhart, Noël Peretti, Philippe Moulin, Jean Ferrières, Alain Pradignac, Michel Farnier, Antonio Gallo, Cécile Yelnik, Dirk Blom, Mathilde Varret.
Atherosclerosis. 2024:399:118596
doi: 10.1016/j.atherosclerosis.2024.118596
PMID: 39500114

Evinacumab and Cardiovascular Outcome in Patients With Homozygous Familial Hypercholesterolemia.
Béliard S, Saheb S, Litzler-Renault S, Vimont A, Valero R, Bruckert É, Farnier M, Gallo A.
Arterioscler Thromb Vasc Biol. 2024;44:1447-1454.
doi: 10.1161/ATVBAHA.123.320609.
PMID: 38695169

Low Density Lipoprotein Cholesterol Decreases the Expression of Adenosine A_2AReceptor and Lipid Rafts-Protein Flotillin-1: Insights on Cardiovascular Risk of Hypercholesterolemia.
Chaptal MC, Maraninchi M, Musto G, Mancini J, Chtioui H, Dupont-Roussel J, Marlinge M, Fromonot J, Lalevee N, Mourre F, Beliard S, Guieu R, Valero R, Mottola G.
Cells. 2024;13:488.
doi: 10.3390/cells13060488.
PMID: 38534331

Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.
Peretti N, Vimont A, Mas E, Lemale J, Reynaud R, Tounian P, Poinsot P, Restier L, Paillard F, Pradignac A, Pucheu Y, Rabès JP, Bruckert E, Gallo A, Béliard S.
Arch Pediatr. 2024;31:188-194.
doi: 10.1016/j.arcped.2024.01.004.
PMID: 38538465

Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.
Mulder JWCM, Tromp TR, Al-Khnifsawi M, Blom DJ, Chlebus K, Cuchel M, D’Erasmo L, Gallo A, Hovingh GK, Kim NT, Long J, Raal FJ, Schonck WAM, Soran H, Truong TH, Boersma E, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators.
JAMA Cardiol. 2024;9:313-322.
doi: 10.1001/jamacardio.2023.5597.
PMID: 38353972

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration.
Lancet. 2024;403:55-66.
doi: 10.1016/S0140-6736(23)01842-1.
PMID: 38101429

Increased FH-Risk-Score and Diabetes Are Cardiovascular Risk Equivalents in Heterozygous Familial Hypercholesterolemia.
Paquette M, Cariou B, Bernard S, Hegele RA, Gallo A, Genest J, Trinder M, Brunham LR, Béliard S, Baass A.
Arterioscler Thromb Vasc Biol. 2024;44:505-512
doi: 10.1161/ATVBAHA.123.319957.
PMID: 38031840

Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia.
Ferrières J, Farnier M, Bruckert E, Vimont A, Durlach V, Ferrari E, Gallo A, Boccara F, Ferrières D, Béliard S; French FH Registry group: French REgistry of Familial hypercholesterolemia (REFERCHOL).
Atheroscler Plus. 2022;50:17-24.
doi: 10.1016/j.athplu.2022.08.001.
PMID: 36643794

Metabolic syndrome predicts cardiovascular risk and mortality in familial hypercholesterolemia.
Paquette M, Bernard S, Cariou B, Hegele RA, Genest J, Trinder M, Brunham LR, Béliard S, Baass A.
J Clin Lipidol. 2023:S1933-2874(23)00064-8.
doi: 10.1016/j.jacl.2023.03.008.
PMID: 37003850

Maternal Inheritance of Familial Hypercholesterolemia Gene Mutation Predisposes to Coronary Atherosclerosis as Assessed by Calcium Score in Adulthood.
Mourre F, Giorgi R, Gallo A, Boccara F, Bruckert E, Carrié A, Hankard R, Inamo J, Laboureau S, Moulin P, Valéro R, Béliard S; REFERCHOL Investigators.
Arterioscler Thromb Vasc Biol. 2023;43:e94-e103
doi: 10.1161/ATVBAHA.122.318119.
PMID: 36579650

Effect of the LDL receptor mutation type on incident major adverse cardiovascular events in familial hypercholesterolaemia.
Paquette M, Carrié A, Bernard S, Cariou B, Hegele RA, Genest J, Trinder M, Brunham LR, Béliard S, Baass A.
Eur J Prev Cardiol. 2022;29:2125-2131.
doi: 10.1093/eurjpc/zwac188.
PMID: 36047048

Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis.
Peretti N, Vimont A, Mas E, Ferrières J, Tounian P, Lemale J, Boccara F, Di Filippo M, Charriere S, Moulin P, Poinsot P, Cottin Y, Ducluzeau PH, Dourmap C, Cariou B, Farnier M, Paillard F, Pradignac A, Yelnik C, Gallo A, Bruckert E, Beliard S; French Registry of Familial Hypercholesterolemia (REFERCHOL) investigators.
J Pediatr. 2022:S0022-3476(22)00777-6.
doi: 10.1016/j.jpeds.2022.08.041.
PMID: 36049522

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators.
Lancet. 2022;399(10326):719-728.
doi: 10.1016/S0140-6736(21)02001-8.
PMID: 35101175 Free article.

Lipoprotein(a): Pathophysiology, measurement, indication and treatment in cardiovascular disease. A consensus statement from the Nouvelle Société Francophone d’Athérosclérose (NSFA).
Durlach V, Bonnefont-Rousselot D, Boccara F, Varret M, Di-Filippo Charcosset M, Cariou B, Valero R, Charriere S, Farnier M, Morange PE, Meilhac O, Lambert G, Moulin P, Gillery P, Beliard-Lasserre S, Bruckert E, Carrié A, Ferrières J, Collet X, Chapman MJ, Anglés-Cano E.
Arch Cardiovasc Dis. 2021;114:828-847.
doi: 10.1016/j.acvd.2021.10.009.
PMID: 34840125

Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study.
Gallo A, Giral P, Rosenbaum D, Mattina A, Kilinc A, Giron A, Bouazizi K, Gueda Moussa M, Salem JE, Carrié A, Carreau V, Béliard S, Bittar R, Cluzel P, Bruckert E, Redheuil A, Kachenoura N.
EBioMedicine. 2021;74:103735.
doi: 10.1016/j.ebiom.2021.103735. Epub 2021 Dec 2.
PMID: 34864619

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Lancet. 2021;S0140-6736(21)01122-3.
doi: 10.1016/S0140-6736(21)01122-3.
PMID: 34506743
Accéder au commentaire de la NSFA sur cet article

The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia.
Gallo A, Pérez de Isla L, Charrière S, Vimont A, Alonso R, Muñiz-Grijalvo O, Díaz-Díaz JL, Zambón D, Moulin P, Bruckert E, Mata P, Béliard S; REFERCHOL and SAFEHEART investigators.
JACC Cardiovasc Imaging. 2021 Jul 8:S1936-878X(21)00501-5. doi: 10.1016/j.jcmg.2021.06.011.
PMID: 34274263
Accéder au commentaire de la NSFA sur cet article

Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia
Paquette M, Bernard S, Bertrand Cariou S, Hegele RA, Genest J, Trinder M, Brunham LR, Béliard S, Baass A.
Arteriosclerosis, Thrombosis, and Vascular Biology. 2021;41:2632–2640.
doi.org/10.1161/ATVBAHA.121.316106
PMID: 34433300
Accéder au calculateur de risque lié à cet article.

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.
D’Erasmo L, Gallo A, Cefalù AB, Di Costanzo A, Saheb S, Giammanco A, Averna M, Buonaiuto A, Iannuzzo G, Fortunato G, Puja A, Montalcini T, Pavanello C, Calabresi L, Vigna GB, Bucci M, Bonomo K, Nota F, Sampietro T, Sbrana F, Suppressa P, Sabbà C, Fimiani F, Cesaro A, Calabrò P, Palmisano S, D’Addato S, Pisciotta L, Bertolini S, Bittar R, Kalmykova O, Béliard S, Carrié A, Arca M, Bruckert E.
Orphanet J Rare Dis. 2021;16:381.
doi: 10.1186/s13023-021-01999-8.
PMID: 34496902

Evinacumab for Homozygous Familial Hypercholesterolemia.
Raal FJ, Rosenson RS, Reeskamp LF, Hovingh GK, Kastelein JJP, Rubba P, Ali S, Banerjee P, Chan KC, Gipe DA, Khilla N, Pordy R, Weinreich DM, Yancopoulos GD, Zhang Y, Gaudet D; ELIPSE HoFH Investigators.
N Engl J Med. 2020;383:711-720.
doi: 10.1056/NEJMoa2004215.
PMID: 32813947

SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia.
Gallo A, Charriere S, Vimont A, Chapman MJ, Angoulvant D, Boccara F, Cariou B, Carreau V, Carrié A, Bruckert E, Béliard S; French REgistry of Familial hypERCHOLesterolemia (REFERCHOL) investigators.
Atherosclerosis. 2020;306:41-49.
doi: 10.1016/j.atherosclerosis.2020.06.011.
PMID: 32688103

Polyvascular subclinical atherosclerosis in familial hypercholesterolemia: The role of cholesterol burden and gender.
Mattina A, Giammanco A, Giral P, Rosenbaum D, Carrié A, Cluzel P, Redheuil A, Bittar R, Béliard S, Noto D, Quartarone A, Averna M, Bruckert É, Gallo A.
Nutr Metab Cardiovasc Dis. 2019;29:1068-1076.
doi: 10.1016/j.numecd.2019.06.015.
PMID: 31378630

Familial hypercholesterolemia: an under-diagnosed and under-treated disease. Survey of 495 physicians.
Sophie Béliard, Jean-Pierre Rabès, Bertrand Cariou, Michel Farnier, Michel Krempf, Jean Ferrières, Nicolas Danchin, Eric Bruckert.
Presse Med. 2018;47:e159-e167.
doi: 10.1016/j.lpm.2018.01.025.
PMID: 30060905

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry.
Béliard S, Boccara F, Cariou B, Carrié A, Collet X, Farnier M, Ferrières J, Krempf M, Peretti N, Rabès JP, Varret M, Vimont A, Charrière S, Bruckert E; French FH Registry group.
Atherosclerosis. 2018 Oct;277:334-340.
doi: 10.1016/j.atherosclerosis.2018.08.010.
PMID: 30270068

Overview of the current status of familial hypercholesterolaemia care in over 60 countries – The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).
EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M, Bruckert E, Chlebus K, Corral P, Descamps O, Durst R, Ezhov M, Fras Z, Genest J, Groselj U, Harada-Shiba M, Kayikcioglu M, Lalic K, Lam CSP, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Maher V, Majano N, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi HM, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Ž, Sadoh WE, Sahebkar A, Shehab A, Shek AB, Stoll M, Su TC, Subramaniam T, Susekov AV, Symeonides P, Tilney M, Tomlinson B, Truong TH, Tselepis AD, Tybjærg-Hansen A, Vázquez-Cárdenas A, Viigimaa M, Vohnout B, Widén E, Yamashita S, Banach M, Gaita D, Jiang L, Nilsson L, Santos LE, Schunkert H, Tokgözoğlu L, Car J, Catapano AL, Ray KK; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators.
Atherosclerosis. 2018 Oct;277:234-255.
doi: 10.1016/j.atherosclerosis.2018.08.051.
PMID: 30270054

Lipoprotein-apheresis in familial hypercholesterolemia: Long-term patient compliance in a French cohort.
Beliard S, Gallo A, Duchêne E, Carrié A, Bittar R, Chapman MJ, Bruckert E, Saheb S.
Atherosclerosis. 2018 Oct;277:66-71.
doi: 10.1016/j.atherosclerosis.2018.08.007.
PMID: 30176566

Familial hypercholesterolemia: experience from France.
Rabès JP, Béliard S, Carrié A.
Curr Opin Lipidol. 2018 Apr;29(2):65-71.
doi: 10.1097/MOL.0000000000000496.
PMID: 29389714

Familial hypercholesterolemia: A largely underestimated cardiovascular risk.
Ann Cardiol Angeiol Ferrières J, Bruckert É, Béliard S, Rabès JP, Farnier M, Krempf M, Cariou B, Danchin N.
Ann Cardiol Angeiol (Paris). 2018;67:1-8.
doi: 10.1016/j.ancard.2017.04.015.
PMID: 28576280

Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia.
Gallo A, Giral P, Carrié A, Carreau V, Béliard S, Bittar R, Maranghi M, Arca M, Cluzel P, Redheuil A, Bruckert E, Rosenbaum D.
J Clin Lipidol. 2017;11:704-711.e2.
doi: 10.1016/j.jacl.2017.03.016.
PMID: 28456681

Long-term outcome in 53 patients with homozygous familial hypercholesterolaemia in a single centre in France.
Bruckert E, Kalmykova O, Bittar R, Carreau V, Béliard S, Saheb S, Rosenbaum D, Bonnefont-Rousselot D, Thomas D, Emery C, Khoshnood B, Carrié A.
Atherosclerosis. 2017;257:130-137.
doi: 10.1016/j.atherosclerosis.2017.01.015.
PMID: 28131047

The very high cardiovascular risk in heterozygous familial hypercholesterolemia: Analysis of 734 French patients.
Béliard S, Millier A, Carreau V, Carrié A, Moulin P, Fredenrich A, Farnier M, Luc G, Rosenbaum D, Toumi M, Bruckert E; French FH Registry group.
J Clin Lipidol. 2016 Sep-Oct;10(5):1129-1136.e3.
doi: 10.1016/j.jacl.2016.06.007.
PMID: 27678429

Improvement in LDL-cholesterol levels of patients with familial hypercholesterolemia: can we do better? Analysis of results obtained during the past two decades in 1669 French subjects.
Béliard S, Carreau V, Carrié A, Giral P, Duchêne E, Farnier M, Ferrières J, Fredenrich A, Krempf M, Luc G, Moulin P, Bruckert E.
Atherosclerosis. 2014;234:136-41.
doi: 10.1016/j.atherosclerosis.2014.02.021.
PMID: 24637413