Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017

Author:

Harada-Shiba Mariko1,Arai Hidenori2,Ishigaki Yasushi3,Ishibashi Shun4,Okamura Tomonori5,Ogura Masatsune1,Dobashi Kazushige6,Nohara Atsushi7,Bujo Hideaki8,Miyauchi Katsumi9,Yamashita Shizuya10,Yokote Koutaro11,

Affiliation:

1. Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute

2. National Center for Geriatrics and Gerontology

3. Department of Internal Medicine Division of Diabetes and Metabolism, Iwate Medical University

4. Division of Endocrinology and Metabolism, Jichii Medical University School of Medicine

5. Department of Preventive Medicine and Public Health, School of Medicine, Keio University

6. Department of Pediatrics, Showa University School of Medicine

7. Kanazawa University Health Service Center

8. Department of Clinical-Laboratory and Experimental-Research Medicine, Toho University Sakura Medical Center

9. Department of Cardiology, Juntendo Tokyo Koto Geriatric Medical Center

10. Department of Community Medicine & Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine

11. Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine

Publisher

Japan Atherosclerosis Society

Subject

Biochemistry (medical),Cardiology and Cardiovascular Medicine,Internal Medicine

Reference73 articles.

1. 1) Mabuchi H, Koizumi J, Shimizu M, Takeda R: Development of coronary heart disease in familial hypercholesterolemia. Circulation, 1989; 79: 225-232

2. 2) Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Boren J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjaerg-Hansen A: Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. Eur Heart J, 2013; 34: 3478-3490

3. 3) Ohta N, Hori M, Takahashi A, Ogura M, Makino H, Tamanaha T, Fujiyama H, Miyamoto Y, Harada-Shiba M: Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia. J Clin Lipidol, 2015; 10: 547-555 e545

4. 4) Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, Nakanishi C, Mori M, Yamagishi M, Inazu A, Koizumi J: Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis, 2011; 214: 404-407

5. 5) Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C: Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet, 2003; 34: 154-156

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