Familial Hypercholesterolaemia: Common and Rare Disorder (OMIM #143890)

References

Xu YX, Redon V, Yu H, Querbes W, Pirruccello J, Liebow A, et al. Role of angiopoietin-like 3 (ANGPTL3) in regulating plasma level of low-density lipoprotein cholesterol. Atherosclerosis. 2018 Jan 1;268:196–206.
The NHS Long Term Plan [Internet]. 2019. Available from: www.longtermplan.nhs.uk
Toribio-Fernández R, Tristão-Pereira C, Carlos Silla-Castro J, Callejas S, Oliva B, Fernandez-Nueda I, et al. Apolipoprotein E -ε2 and Resistance to Atherosclerosis in Midlife—The PESA Observational Study. Circ Res [Internet]. 2024 Jan 23; Available from: https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.123.323921
Ison HE, Clarke SL, Knowles JW. Familial Hypercholesterolemia Synonyms: Familial Hypercholesterolaemia, Hyperlipoproteinemia Type IIA. 2014.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al. Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper fromthe Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Vol. 35, European Heart Journal. Oxford University Press; 2014. p. 2146–57.
Zhou L, Zhang H, Wang S, Zhao H, Li Y, Han J, et al. PCSK-9 inhibitors: a new direction for the future treatment of ischemic stroke. Vol. 14, Frontiers in Pharmacology. Frontiers Media SA; 2023.
Familial hypercholesterolaemia: identification and management Clinical guideline [Internet]. 2008. Available from: www.nice.org.uk/guidance/cg71
Rafieian-Kopaei M, Setorki M, Doudi M, Baradaran A, Nasri H. Atherosclerosis: Process, Indicators, Risk Factors and New Hopes [Internet]. Vol. 5, International Journal of Preventive Medicine. 2014. Available from: www.ijpm.ir
Li B V, Laurie AD, Reid NJ, Leath MA, King RI, Chan HK, et al. Association of Clinical Characteristics With Familial Hypercholesterolaemia Variants in a Lipid Clinic Setting: A Case-Control Study. J Lipid Atheroscler [Internet]. 2024;13(1):29. Available from: https://e-jla.org/DOIx.php?id=10.12997/jla.2024.13.1.29
Raal FJ, Rosenson RS, Reeskamp LF, Hovingh GK, Kastelein JJP, Rubba P, et al. Evinacumab for Homozygous Familial Hypercholesterolemia. New England Journal of Medicine [Internet]. 2020 Aug 20;383(8):711–20. Available from: http://www.nejm.org/doi/10.1056/NEJMoa2004215
Pessentheiner AR, Ramms B, Gordts PLSM. ANGPTL3 targeting: The power of versatile lipid-lowering. Vol. 268, Atherosclerosis. Elsevier Ireland Ltd; 2018. p. 185–7.
Mohamed F, Mansfield BS, Raal FJ. ANGPTL3 as a Drug Target in Hyperlipidemia and Atherosclerosis. Vol. 24, Current Atherosclerosis Reports. Springer; 2022. p. 959–67.