REFERENCES

1. Committee for Practice Guidelines (CPG), ESC National Cardiac Societies. 2019 ESC/EAS guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Atherosclerosis. 2019;290:140-205.

2. de Isla L, Watts GF, Muñiz-Grijalvo O, et al; SAFEHEART Investigators. A resilient type of familial hypercholesterolaemia: case-control follow-up of genetically characterized older patients in the SAFEHEART cohort. Eur J Prev Cardiol. 2022;29:795-801.

3. McKay AJ, Gunn LH, Ray KK. Assessing the external validity of the SAFEHEART risk prediction model in patients with familial hypercholesterolaemia in an English routine care cohort. Atherosclerosis. 2022;358:68-74.

4. Galema-Boers AM, Lenzen MJ, Engelkes SR, Sijbrands EJ, Roeters van Lennep JE. Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy. J Clin Lipidol. 2018;12:409-16.

5. Akioyamen LE, Genest J, Chu A, Inibhunu H, Ko DT, Tu JV. Risk factors for cardiovascular disease in heterozygous familial hypercholesterolemia: A systematic review and meta-analysis. J Clin Lipidol. 2019;13:15-30.

6. Romero-Jiménez MJ, Mansilla-Rodríguez ME, Gutiérrez-Cortizo EN. Predictors of cardiovascular risk in familial hypercholesterolemia. Curr Opin Lipidol. 2023;34:272-7.

7. Tada H, Kawashiri MA, Nohara A, Inazu A, Mabuchi H, Yamagishi M. Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia. Eur Heart J. 2017;38:1573-9.

8. Isla LP, Vallejo-Vaz AJ, Watts GF, et al; SAFEHEART Investigators. Long-term sex differences in atherosclerotic cardiovascular disease in individuals with heterozygous familial hypercholesterolaemia in Spain: a study using data from SAFEHEART, a nationwide, multicentre, prospective cohort study. Lancet Diabetes Endocrinol. 2024;12:643-52.

9. Shin DG, Han SM, Kim DI, et al. Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - a study supported by the Korean Society of Lipidology and Atherosclerosis. Atherosclerosis. 2015;243:53-8.

10. Chan DC, Pang J, Hooper AJ, et al. Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia. Int J Cardiol. 2015;201:633-8.

11. Bianconi V, Banach M, Pirro M; International Lipid Expert Panel (ILEP). Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels. Trends Cardiovasc Med. 2021;31:205-15.

12. Elshorbagy A, Vallejo-Vaz AJ, Barkas F, et al. Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry. Eur Heart J. 2025;46:1127-40.

13. Harada-Shiba M, Arai H, Ohmura H, et al. Guidelines for the diagnosis and treatment of adult familial hypercholesterolemia 2022. J Atheroscler Thromb. 2023;30:558-86.

14. Lee CJ, Yoon M, Kang HJ, et al; Task Force Team for Familial Hypercholesterolemia. 2022 consensus statement on the management of familial hypercholesterolemia in Korea. J Lipid Atheroscler. 2022;11:213-28.

15. Tada H, Kojima N, Takeji Y, Nohara A, Kawashiri MA, Takamura M. Impact of changes in Achilles tendon thickening on cardiovascular events in patients with familial hypercholesterolemia. Am J Prev Cardiol. 2024;18:100660.

16. Santos RD, Gidding SS, Hegele RA, et al; International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016;4:850-61.

17. Shishikura D, Harada-Shiba M, Michikura M, et al. Clinical impact of lipoprotein (a) and cumulative low-density lipoprotein cholesterol exposure on coronary artery disease in patients with heterozygous familial hypercholesterolemia. J Atheroscler Thromb. 2025;32:100-10.

18. Tada H, Okada H, Nohara A, Yamagishi M, Takamura M, Kawashiri MA. Effect of cumulative exposure to low-density lipoprotein-cholesterol on cardiovascular events in patients with familial hypercholesterolemia. Circ J. 2021;85:2073-8.

19. Tromp TR, Ibrahim S, Nurmohamed NS, et al. Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia. Atherosclerosis. 2023;365:27-33.

20. Pérez de Isla L, Alonso R, Mata N, et al. Predicting cardiovascular events in familial hypercholesterolemia: the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study). Circulation. 2017;135:2133-44.

21. Paquette M, Dufour R, Baass A. The montreal-FH-SCORE: a new score to predict cardiovascular events in familial hypercholesterolemia. J Clin Lipidol. 2017;11:80-6.

22. Paquette M, Bernard S, Cariou B, et al. Familial hypercholesterolemia-risk-score: a new score predicting cardiovascular events and cardiovascular mortality in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2021;41:2632-40.

23. Guerin M. Reverse cholesterol transport in familial hypercholesterolemia. Curr Opin Lipidol. 2012;23:377-85.

24. Tada H, Okada H, Nohara A, et al. Impact of high-density lipoprotein function, rather than high-density lipoprotein cholesterol level, on cardiovascular disease among patients with familial hypercholesterolemia. Circ J. 2023;87:806-12.

25. Ogura M, Hori M, Harada-Shiba M. Association between cholesterol efflux capacity and atherosclerotic cardiovascular disease in patients with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2016;36:181-8.

26. Versmissen J, Vongpromek R, Yahya R, et al. Familial hypercholesterolaemia: cholesterol efflux and coronary disease. Eur J Clin Invest. 2016;46:643-50.

27. Clarke SL. Does low-density lipoprotein fully explain atherosclerotic risk in familial hypercholesterolemia? Curr Opin Lipidol. 2023;34:52-8.

28. Ibrahim S, Hartgers ML, Reeskamp LF, et al. LDLR variant classification for improved cardiovascular risk prediction in familial hypercholesterolemia. Atherosclerosis. 2024;397:117610.

29. Paquette M, Chong M, Thériault S, Dufour R, Paré G, Baass A. Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia. J Clin Lipidol. 2017;11:725-732.e5.

30. Gallo A, Pérez de Isla L, Charrière S, et al; REFERCHOL and SAFEHEART Investigators. The added value of coronary calcium score in predicting cardiovascular events in familial hypercholesterolemia. JACC Cardiovasc Imaging. 2021;14:2414-24.

31. Miname MH, Bittencourt MS, Moraes SR, et al. Coronary artery calcium and cardiovascular events in patients with familial hypercholesterolemia receiving standard lipid-lowering therapy. JACC Cardiovasc Imaging. 2019;12:1797-804.

32. Tada H, Nohara A, Usui S, et al. Coronary artery and carotid artery plaques in patients with heterozygous familial hypercholesterolemia. JACC Adv. 2023;2:100594.

33. Bea AM, Civeira F, Jarauta E, et al. Association between the presence of carotid artery plaque and cardiovascular events in patients with genetic hypercholesterolemia. Rev Esp Cardiol. 2017;70:551-8.

34. Familial Hypercholesterolaemia Studies Collaboration (FHSC). Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. 2021;398:1713-25.

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