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Page 1
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, Karayan L, Kastelein JJP, Kindt I, Lane SR, Leigh SE, Linton MF, Mata P, Neal WA, Nordestgaard BG, Santos RD, Harada-Shiba M, Sijbrands EJ, Stitziel NO, Yamashita S, Wilemon KA, Ledbetter DH, Rader DJ; Convened by the Familial Hypercholesterolemia Foundation. Sturm AC, et al. Among authors: bourbon m. J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044. J Am Coll Cardiol. 2018. PMID: 30071997 Free article. Review.
The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) c …
The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular …
Recent advances in research and care of familial hypercholesterolaemia.
Santos RD, Gidding SS, Bourbon M, Iatan I, Harada-Shiba M, Raal FJ, Vallejo-Vaz AJ, Wiegman A, Watts GF. Santos RD, et al. Among authors: bourbon m. Lancet Diabetes Endocrinol. 2025 Dec;13(12):1054-1071. doi: 10.1016/S2213-8587(25)00286-4. Epub 2025 Oct 22. Lancet Diabetes Endocrinol. 2025. PMID: 41138742 Review.
Heterozygous familial hypercholesterolaemia is a common, autosomal semi-dominant condition characterised by elevation of LDL cholesterol from birth and early onset of atherosclerotic cardiovascular disease. With major advances in knowledge about the disease, familial hyper …
Heterozygous familial hypercholesterolaemia is a common, autosomal semi-dominant condition characterised by elevation of LDL cholesterol fro …
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. Tromp TR, et al. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28. Lancet. 2022. PMID: 35101175 Free PMC article.
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 prog …
BACKGROUND: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipopr …
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.
Tabet DR, Coté AG, Lancaster MC, Weile J, Rayhan A, Fotiadou I, Kishore N, Li R, Kuang D, Knapp JJ, Carrero CS, Taverniti O, Axakova A, Castelli JMP, Islam MM, Sowlati-Hashjin S, Gandhi A, Maaieh R, Garton M, Matreyek K, Fowler DM, Bourbon M, Pfisterer SG, Glazer AM, Kroncke BM, Parikh VN, Ashley EA, Knowles JW, Claussnitzer M, Cirulli ET, Hegele RA, Roden DM, MacRae CA, Roth FP. Tabet DR, et al. Among authors: bourbon m. Science. 2026 Feb 19;391(6787):eady7186. doi: 10.1126/science.ady7186. Epub 2026 Feb 19. Science. 2026. PMID: 41166440 Free PMC article.
Variants in the familial hypercholesterolemia gene LDLR-the most important genetic driver of cardiovascular disease-can raise circulating low-density lipoprotein (LDL) cholesterol concentrations and increase the risk of premature atherosclerosis. ...
Variants in the familial hypercholesterolemia gene LDLR-the most important genetic driver of cardiovascular disease-can raise circula …
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. Mulder JWCM, et al. JAMA Cardiol. 2024 Apr 1;9(4):313-322. doi: 10.1001/jamacardio.2023.5597. JAMA Cardiol. 2024. PMID: 38353972 Free PMC article.
Women and men had similar age at diagnosis (median [IQR], 13 [6-26] years vs 11 [5-27] years, respectively), untreated LDL cholesterol levels (mean [SD], 579 [203] vs 596 [186] mg/dL, respectively), and cardiovascular risk factor prevalence, except smoking (38 of 266 women …
Women and men had similar age at diagnosis (median [IQR], 13 [6-26] years vs 11 [5-27] years, respectively), untreated LDL cholesterol level …
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study.
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration. European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration. Lancet. 2024 Jan 6;403(10421):55-66. doi: 10.1016/S0140-6736(23)01842-1. Epub 2023 Dec 12. Lancet. 2024. PMID: 38101429 Free article.
Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72.4%) of 10 428 included children or adolescents were not taking lipid-lowering me …
Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, …
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.
de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J. de Las Heras J, et al. Among authors: bourbon m. Nutrients. 2024 Dec 13;16(24):4309. doi: 10.3390/nu16244309. Nutrients. 2024. PMID: 39770929 Free PMC article. Review.
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).
EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. 2021 Nov 6;398(10312):1713-1725. doi: 10.1016/S0140-6736(21)01122-3. Epub 2021 Sep 7. Lancet. 2021. PMID: 34506743
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. …
Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascu …
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: bourbon m. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free PMC article.
Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.
Elshorbagy A, Vallejo-Vaz AJ, Barkas F, Lyons ARM, Stevens CAT, Dharmayat KI, Catapano AL, Freiberger T, Hovingh GK, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Alhabib KF, Alkhnifsawi M, Almahmeed W, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Arca M, Ashavaid TF, Averna M, Banach M, Becker M, Binder CJ, Bourbon M, Brunham LR, Chlebus K, Corral P, Cruz D, Davletov K, Descamps OS, Dwiputra B, Ezhov M, Groselj U, Harada-Shiba M, Holven KB, Humphries SE, Kayikcioglu M, Khovidhunkit W, Lalic K, Latkovskis G, Laufs U, Liberopoulos E, Lima-Martinez MM, Maher V, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nordestgaard BG, Panayiotou AG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Ž, Reyes X, Sadiq F, Sadoh WE, Schunkert H, Shek AB, Stroes E, Su TC, Subramaniam T, Susekov AV, Tilney M, Tomlinson B, Truong TH, Tselepis AD, Tybjærg-Hansen A, Vázquez-Cárdenas A, Viigimaa M, Vohnout B, Yamashita S, Ray KK. Elshorbagy A, et al. Among authors: bourbon m. Eur Heart J. 2025 Mar 24;46(12):1127-1140. doi: 10.1093/eurheartj/ehae791. Eur Heart J. 2025. PMID: 39801189 Free PMC article.
BACKGROUND AND AIMS: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additio …
BACKGROUND AND AIMS: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the gen …
70 results