[
1. Ogura M, Harada-Shiba M, Masuda D, Arai H, Bujo H, Ishibashi S, et al. Factors Associated with Carotid Atherosclerosis and Achilles Tendon Thickness in Japanese Patients with Familial Hypercholesterolemia: A Subanalysis of the Familial Hypercholesterolemia Expert Forum (FAME) Study. J Atheroscler Thromb. 2021;28:0–000. doi:10.5551/jat.62925.10.5551/jat.6292534108342
]Search in Google Scholar
[
2. Arnett DK, Blumenthal RS, Albert MA, Buroker AB, Goldberger ZD, Hahn EJ, et al. 2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: A Report of the American College of Cardiology/ American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;140:e596–646. doi:10.1161/CIR.0000000000000678.10.1161/CIR.0000000000000678773466130879355
]Search in Google Scholar
[
3. Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. Journal of the American College of Cardiology. 2018;72:662–80.10.1016/j.jacc.2018.05.04430071997
]Search in Google Scholar
[
4. Moldovan V, Banescu C, Dobreanu M. Molecular diagnosis methods in familial hypercholesterolemia. Anatolian Journal of Cardiology. 2020;23:120–7.
]Search in Google Scholar
[
5. Trinder M, Li X, DeCastro ML, Cermakova L, Sadananda S, Jackson LM, et al. Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia. J Am Coll Cardiol. 2019;74:512–22.10.1016/j.jacc.2019.05.04331345425
]Search in Google Scholar
[
6. The LDLR gene homepage - Global Variome shared LOVD. https://databases.lovd.nl/shared/genes/LDLR. Accessed 13 Jun 2021.
]Search in Google Scholar
[
7. MLPA: Multiplex Ligation-dependent Probe Amplification - MRC Holland. https://www.mrcholland.com/technology/mlpa. Accessed 1 Jun 2021.
]Search in Google Scholar
[
8. MLPA ® MLPA ® MRC-Holland Product Description SALSA ® MLPA ® Probemix P062-D2 LDLR. www.mlpa.com. Accessed 3 Jun 2021.
]Search in Google Scholar
[
9. MedCalc’s Comparison of means calculator. https://www.medcalc.org/calc/comparison_of_means.php. Accessed 2 Jun 2021.
]Search in Google Scholar
[
10. Nordestgaard BG, Benn M. Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: Who does it in the world? European Heart Journal. 2017;38:1580–3. doi:10.1093/eurheartj/ehx136.10.1093/eurheartj/ehx13628419271
]Search in Google Scholar
[
11. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease. Eur Heart J. 2013;34:3478–90. doi:10.1093/eurheartj/eht273.10.1093/eurheartj/eht273384415223956253
]Search in Google Scholar
[
12. Pang J, Chan DC, Watts GF. The Knowns and Unknowns of Contemporary Statin Therapy for Familial Hypercholesterolemia. Current Atherosclerosis Reports. 2020;22:1–10. doi:10.1007/s11883-020-00884-2.10.1007/s11883-020-00884-2745926832870376
]Search in Google Scholar
[
13. Bandeali S, Farmer J. High-density lipoprotein and atherosclerosis: The role of antioxidant activity. Curr Atheroscler Rep. 2012;14:101–7. doi:10.1007/s11883-012-0235-2.10.1007/s11883-012-0235-222441969
]Search in Google Scholar
[
14. Woudberg NJ, Pedretti S, Lecour S, Schulz R, Vuilleumier N, James RW, et al. Pharmacological intervention to modulate HDL: What do we target? Frontiers in Pharmacology. 2018;8 JAN:989. doi:10.3389/fphar.2017.00989.10.3389/fphar.2017.00989578657529403378
]Search in Google Scholar
[
15. Moldovan V, Moldovan E. Multiplex ligation-dependent probe amplification – a short overview. Rev Rom Med Lab. 2020;28:123–31.10.2478/rrlm-2020-0016
]Search in Google Scholar
[
16. Iacocca M, Wang J, Dron J, Cao H, Robinson J, McIntyre A, et al. DNA copy number variation screening in familial hypercholesterolemia-related genes. Atherosclerosis. 2018;275:e79. doi:10.1016/j. atherosclerosis.2018.06.218.
]Search in Google Scholar
[
17. Iacocca MA, Wang J, Dron JS, Robinson JF, McIntyre AD, Cao H, et al. Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia. J Lipid Res. 2017;58:2202–9. doi:10.1194/jlr.D079301.10.1194/jlr.D079301566566328874442
]Search in Google Scholar
[
18. CytoSure Comprehensive FH Panel. https://www.ogt.com/products/product-search/cytosure-comprehensive-fh-panel/. Accessed 4 Jun 2021.
]Search in Google Scholar
[
19. Scholarship W, Iacocca M, Hegele S, Program in Biochemistry G. Improving the genetic diagnosis of familial hypercholesterolemia. 2019. https://ir.lib.uwo.ca/etd https://ir.lib.uwo.ca/etd/6017. Accessed 14 Jun 2021.
]Search in Google Scholar
[
20. Pećin I, Whittall R, Futema M, Sertić J, Reiner Ž, Leigh SEA, et al. Mutation detection in Croatian patients with Familial Hypercholesterolemia. Ann Hum Genet. 2013;77:22–30. doi:10.1111/j.1469-1809.2012.00735.x.10.1111/j.1469-1809.2012.00735.x23130880
]Search in Google Scholar
[
21. Sharifi M, Walus-Miarka M, Idzior-Waluś B, Malecki MT, Sanak M, Whittall R, et al. The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. Metabolism. 2016;65:48–53. doi:10.1016/j. metabol.2015.10.018.
]Search in Google Scholar
[
22. Hori M, Ohta N, Takahashi A, Masuda H, Isoda R, Yamamoto S, et al. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis. 2019;289:101–8. doi:10.1016/j.atherosclerosis.2019.08.004.10.1016/j.atherosclerosis.2019.08.00431491741
]Search in Google Scholar
[
23. Martín-Campos JM, Plana N, Figueras R, Ibarretxe D, Caixàs A, Esteve E, et al. Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting. J Clin Lipidol. 2018;12:1452–62. doi:10.1016/j.jacl.2018.09.002.10.1016/j.jacl.2018.09.00230293936
]Search in Google Scholar
[
24. Khera A V., Hegele RA. What Is Familial Hypercholesterolemia, and Why Does It Matter? Circulation. 2020;141:1760–3. doi:10.1161/CIRCULATIONAHA.120.046961.10.1161/CIRCULATIONAHA.120.046961729954332479201
]Search in Google Scholar
[
25. Chaudhary R, Garg J, Shah N, Sumner A. PCSK9 inhibitors: A new era of lipid lowering therapy. World J Cardiol. 2017;9:76. doi:10.4330/wjc. v9.i2.76.
]Search in Google Scholar
[
26. Ajufo E, deGoma EM, Raper A, Yu KD, Cuchel M, Rader DJ. A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia. Genet Med. 2021;:1–8. doi:10.1038/s41436-021-01192-z.10.1038/s41436-021-01192-z34040191
]Search in Google Scholar