{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T16:40:37Z","timestamp":1789231237534,"version":"build-2803163510"},"reference-count":75,"publisher":"Japan Atherosclerosis Society","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAT","J Atheroscler Thromb"],"published-print":{"date-parts":[[2021]]},"DOI":"10.5551\/jat.rv17050","type":"journal-article","created":{"date-parts":[[2021,4,17]],"date-time":"2021-04-17T22:06:47Z","timestamp":1618697207000},"source":"Crossref","is-referenced-by-count":113,"title":["Homozygous Familial Hypercholesterolemia"],"prefix":"10.5551","author":[{"given":"Atsushi","family":"Nohara","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Ishikawa Prefectural Central Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayato","family":"Tada","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatsune","family":"Ogura","sequence":"additional","affiliation":[{"name":"Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Division for Health Service Promotion, The University of Tokyo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koh","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Shimano","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine (Endocrinology and Metabolism), Faculty of Medicine University of Tsukuba"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Daida","sequence":"additional","affiliation":[{"name":"Faculty of Health Science, Juntendo University, Juntendo University Graduate School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushige","family":"Dobashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, University of Yamanashi"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshio","family":"Hayashi","sequence":"additional","affiliation":[{"name":"School of Health Sciences, Nagoya University Graduate School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika","family":"Hori","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kota","family":"Matsuki","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Minamino","sequence":"additional","affiliation":[{"name":"Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Yokoyama","sequence":"additional","affiliation":[{"name":"Institute for Biological Functions, Chubu University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Harada-Shiba","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3489","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1) Harada-Shiba M, Arai H, Ishigaki Y, Ishibashi S, Okamura T, Ogura M, Dobashi K, Nohara A, Bujo H, Miyauchi K, Yamashita S, Yokote K and Working Group by Japan Atherosclerosis Society for Making Guidance of Familial H. Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017. J Atheroscler Thromb, 2018; 25: 751-770","DOI":"10.5551\/jat.CR003"},{"key":"2","unstructured":"2) Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. The Metabolic & Molecular Bases of Inherited Disease. eighth edition. Vol. 2, Mac Graw Hill. 2863-2913"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3) Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS. Familial hypercholesterolemia. Nat Rev Dis Primers, 2017, 3: 17093","DOI":"10.1038\/nrdp.2017.93"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4) Harada-Shiba M, Takagi A, Miyamoto Y, Tsushima M, Ikeda Y, Yokoyama S and Yamamoto A. Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. J Clin Endocrinol Metab, 2003; 88: 2541-2547","DOI":"10.1210\/jc.2002-021487"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5) Tada H, Kawashiri MA, Ikewaki K, Terao Y, Noguchi T, Nakanishi C, Tsuchida M, Takata M, Miwa K, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H and Yamagishi M. Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo. Circ Cardiovasc Genet, 2012; 5: 35-41","DOI":"10.1161\/CIRCGENETICS.111.960948"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6) Harada-Shiba M, Ohta T, Ohtake A, Ogura M, Dobashi K, Nohara A, Yamashita S, Yokote K, Joint Working Group by Japan Pediatric S and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial H. Guidance for Pediatric Familial Hypercholesterolemia 2017. J Atheroscler Thromb, 2018; 25: 539-553","DOI":"10.5551\/jat.CR002"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7) 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 and European Atherosclerosis Society Consensus P. 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: 3478-3490a","DOI":"10.1093\/eurheartj\/eht273"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8) Goldstein JL, Schrott HG, Hazzard WR, Bierman EL and Motulsky AG. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest, 1973; 52: 1544-1568","DOI":"10.1172\/JCI107332"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9) Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, Nakanishi C, Mori M, Yamagishi M, Inazu A, Koizumi J and Hokuriku FHSG. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis, 2011; 214: 404-407","DOI":"10.1016\/j.atherosclerosis.2010.11.005"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10) Benn M, Watts GF, Tybj\u00e6rg-Hansen A, Nordestgaard BG. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J, 2016; 37: 1384-1394","DOI":"10.1093\/eurheartj\/ehw028"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11) de Ferranti SD, Rodday AM, Mendelson MM, et al. Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation, 2016; 133: 1067-1072","DOI":"10.1161\/CIRCULATIONAHA.115.018791"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12) Beheshti SO, Madsen CM, Varbo A, Nordestgaard BG. Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects. J Am Coll Cardiol, 2020; 75: 2553-2566","DOI":"10.1016\/j.jacc.2020.03.057"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13) Hu P, Dharmayat KI, Stevens CAT, Sharabiani MTA, Jones RS, Watts GF, Genest J, Ray KK, Vallejo-Vaz AJ. Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis. Circulation, 2020; 141: 1742-1759","DOI":"10.1161\/CIRCULATIONAHA.119.044795"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14) Mabuchi H. Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan. J Atheroscler Thromb, 2017; 24: 189-207","DOI":"10.5551\/jat.RV16008"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15) Tada H, Kawashiri MA, Nohara A, Inazu A, Mabuchi H and 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: 1573-1579","DOI":"10.1093\/eurheartj\/ehx004"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16) Hori M, Ohta N, Takahashi A, Masuda H, Isoda R, Yamamoto S, Son C, Ogura M, Hosoda K, Miyamoto Y and Harada-Shiba M. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis, 2019; 289: 101-108","DOI":"10.1016\/j.atherosclerosis.2019.08.004"},{"key":"17","doi-asserted-by":"crossref","unstructured":"18) Noguchi T, Katsuda S, Kawashiri MA, Tada H, Nohara A, Inazu A, Yamagishi M, Kobayashi J and Mabuchi H. The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation. Atherosclerosis, 2010; 210: 166-172","DOI":"10.1016\/j.atherosclerosis.2009.11.018"},{"key":"18","doi-asserted-by":"crossref","unstructured":"19) Tada H, Hori M, Nomura A, Hosomichi K, Nohara A, Kawashiri MA and Harada-Shiba M. A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia. J Clin Lipidol, 2020; 14: 346-351 e9","DOI":"10.1016\/j.jacl.2020.03.002"},{"key":"19","doi-asserted-by":"crossref","unstructured":"20) Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M and Humphries SE. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet, 2013; 381: 1293-1301","DOI":"10.1016\/S0140-6736(12)62127-8"},{"key":"20","doi-asserted-by":"crossref","unstructured":"21) Tada H, Kawashiri MA, Nomura A, Teramoto R, Hosomichi K, Nohara A, Inazu A, Mabuchi H, Tajima A, Yamagishi M. Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease. J Clin Lipidol, 2018; 12: 1436-1444","DOI":"10.1016\/j.jacl.2018.08.006"},{"key":"21","doi-asserted-by":"crossref","unstructured":"22) Tada H, Nohara A, Kawashiri MA. Monogenic, polygenic, and oligogenic familial hypercholesterolemia. Curr Opin Lipidol, 2019; 30: 300-306","DOI":"10.1097\/MOL.0000000000000609"},{"key":"22","doi-asserted-by":"crossref","unstructured":"23) Tada H, Okada H, Nomura A, Yashiro S, Nohara A, Ishigaki Y, Takamura M, Kawashiri MA. Rare and Deleterious Mutations in ABCG5\/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype. Circ J, 2019; 83: 1917-1924","DOI":"10.1253\/circj.CJ-19-0317"},{"key":"23","doi-asserted-by":"crossref","unstructured":"24) de Gennes JL, Daffos F, Dairou F, Forestier F, Capella-Pavlosky M, Truffert J, Gaschard JC, Darbois Y. Direct fetal blood examination for prenatal diagnosis of homozygous familial hypercholesterolemia. Arteriosclerosis, 1985; 5: 440-442","DOI":"10.1161\/01.ATV.5.5.440"},{"key":"24","doi-asserted-by":"crossref","unstructured":"25) Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybj\u00e6rg-Hansen A, Watts GF, Averna M, Boileau C, Bor\u00e9n J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J, 2014; 35: 2146-2157","DOI":"10.1093\/eurheartj\/ehu274"},{"key":"25","doi-asserted-by":"crossref","unstructured":"26) Wiegman A, Gidding SS, Watts GF, Chapman MJ, Ginsberg HN, Cuchel M, Ose L, Averna M, Boileau C, Bor\u00e9n J, Bruckert E, Catapano AL, Defesche JC, Descamps OS, Hegele RA, Hovingh GK, Humphries SE, Kovanen PT, Kuivenhoven JA, Masana L, Nordestgaard BG, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Steinhagen-Thiessen E, Stroes ES, Taskinen MR, Tybj\u00e6rg-Hansen A, Wiklund O; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J, 2015; 36: 2425-2437","DOI":"10.1093\/eurheartj\/ehv157"},{"key":"26","doi-asserted-by":"crossref","unstructured":"27) Kawashiri MA, Okada H, Tada H. Severe calcification of the Achilles' tendon. Eur Heart J, 2021 in press","DOI":"10.1093\/eurheartj\/ehab017"},{"key":"27","doi-asserted-by":"crossref","unstructured":"28) Santos RD, Gidding SS, Hegele RA, Cuchel MA, Barter PJ, Watts GF, Baum SJ, Catapano AL, Chapman MJ, Defesche JC, Folco E, Freiberger T, Genest J, Hovingh GK, Harada-Shiba M, Humphries SE, Jackson AS, Mata P, Moriarty PM, Raal FJ, Al-Rasadi K, Ray KK, Reiner Z, Sijbrands EJ, Yamashita S and International Atherosclerosis Society Severe Familial Hypercholesterolemia P. 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: 850-861","DOI":"10.1016\/S2213-8587(16)30041-9"},{"key":"28","doi-asserted-by":"crossref","unstructured":"29) Tada H, Kawashiri MA, Noguchi T, Mori M, Tsuchida M, Takata M, Nohara A, Inazu A, Kobayashi J, Yachie A, Mabuchi H, Yamagishi M. A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3\/CD28 assay in lymphocytes. Clin Chim Acta, 2009; 400: 42-47","DOI":"10.1016\/j.cca.2008.10.010"},{"key":"29","doi-asserted-by":"crossref","unstructured":"30) Raal FJ, Hovingh GK, Blom D, Santos RD, Harada-Shiba M, Bruckert E, Couture P, Soran H, Watts GF, Kurtz C, Honarpour N, Tang L, Kasichayanula S, Wasserman SM, Stein EA. Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. Lancet Diabetes Endocrinol, 2017; 5: 280-290","DOI":"10.1016\/S2213-8587(17)30044-X"},{"key":"30","doi-asserted-by":"crossref","unstructured":"31) Thedrez A, Blom DJ, Ramin-Mangata S, Blanchard V, Croyal M, Chemello K, Nativel B, Pichelin M, Cariou B, Bourane S, Tang L, Farnier M, Raal FJ, Lambert G. Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab. Arterioscler Thromb Vasc Biol, 2018; 38: 592-598","DOI":"10.1161\/ATVBAHA.117.310217"},{"key":"31","doi-asserted-by":"crossref","unstructured":"32) Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carri\u00e9 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. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol, 2018; 72: 662-680","DOI":"10.1016\/j.jacc.2018.05.044"},{"key":"32","doi-asserted-by":"crossref","unstructured":"33) Gautschi M, Pavlovic M, Nuoffer JM. Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. JIMD Rep, 2012; 2: 45-50","DOI":"10.1007\/8904_2011_45"},{"key":"33","doi-asserted-by":"crossref","unstructured":"34) Widhalm K, Binder CB, Kreissl A, Aldover-Macasaet E, Fritsch M, Kroisboeck S, Geiger H. Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia. J Pediatr, 2011; 158: 167","DOI":"10.1016\/j.jpeds.2010.06.027"},{"key":"34","doi-asserted-by":"crossref","unstructured":"35) Zhang R, Xie J, Zhou J, Xu L, Pan Y, Qu Y, Li R, Chong M, Song L, Wen W, Wu Y, Li J, Wang L, Yang Y. Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia. Am J Cardiol, 2021 in press","DOI":"10.1016\/j.amjcard.2020.12.080"},{"key":"35","doi-asserted-by":"crossref","unstructured":"36) Luirink IK, Kuipers IM, Hutten BA, Planken RN, Backx APCM, Groothoff JW, Wiegman A. Coronary computed tomography angiography and echocardiography in children with homozygous familial hypercholesterolemia. Atherosclerosis, 2019; 285: 87-92","DOI":"10.1016\/j.atherosclerosis.2019.04.219"},{"key":"36","doi-asserted-by":"crossref","unstructured":"37) Tada H, Nohara A, Inazu A, Sakuma N, Mabuchi H, Kawashiri MA. Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease. J Atheroscler Thromb, 2018; 25: 783-789","DOI":"10.5551\/jat.RV17024"},{"key":"37","doi-asserted-by":"crossref","unstructured":"38) Tada H, Kawashiri MA, Takata M, Matsunami K, Imamura A, Matsuyama M, Sawada H, Nunoi H, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H and Yamagishi M. Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding. JIMD Rep, 2015; 21: 115-122","DOI":"10.1007\/8904_2014_404"},{"key":"38","doi-asserted-by":"crossref","unstructured":"39) Sekijima Y, Koyama S, Yoshinaga T, Koinuma M, Inaba Y. Nationwide survey on cerebrotendinous xanthomatosis in Japan. J Hum Genet, 2018; 63: 271-280","DOI":"10.1038\/s10038-017-0389-4"},{"key":"39","doi-asserted-by":"crossref","unstructured":"40) Stein EA, Dann EJ, Wiegman A, Skovby F, Gaudet D, Sokal E, Charng MJ, Mohamed M, Luirink I, Raichlen JS, Sund\u00e9n M, Carlsson SC, Raal FJ, Kastelein JJP. Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations. J Am Coll Cardiol, 2017; 70: 1162-1170","DOI":"10.1016\/j.jacc.2017.06.058"},{"key":"40","doi-asserted-by":"crossref","unstructured":"41) Gagn\u00e9 C, Gaudet D, Bruckert E; Ezetimibe Study Group. Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia. Circulation, 2002; 105: 2469-2475","DOI":"10.1161\/01.CIR.0000018744.58460.62"},{"key":"41","doi-asserted-by":"crossref","unstructured":"42) Yamamoto A, Harada-Shiba M, Endo M, Kusakabe N, Tanioka T, Kato H, Shoji T. The effect of ezetimibe on serum lipids and lipoproteins in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis therapy. Atherosclerosis, 2006; 186: 126-131","DOI":"10.1016\/j.atherosclerosis.2005.06.039"},{"key":"42","doi-asserted-by":"crossref","unstructured":"43) Gotto AM Jr, Moon JE. Pharmacotherapies for lipid modification: beyond the statins. Nat Rev Cardiol, 2013; 10: 560-570","DOI":"10.1038\/nrcardio.2013.117"},{"key":"43","doi-asserted-by":"crossref","unstructured":"44) Santos RD, Stein EA, Hovingh GK, Blom DJ, Soran H, Watts GF, L\u00f3pez JAG, Bray S, Kurtz CE, Hamer AW, Raal FJ. Long-Term Evolocumab in Patients With Familial Hypercholesterolemia. J Am Coll Cardiol, 2020; 75: 565-574","DOI":"10.1016\/j.jacc.2019.12.020"},{"key":"44","doi-asserted-by":"crossref","unstructured":"45) Blom DJ, Harada-Shiba M, Rubba P, Gaudet D, Kastelein JJP, Charng MJ, Pordy R, Donahue S, Ali S, Dong Y, Khilla N, Banerjee P, Baccara-Dinet M, Rosenson RS. Efficacy and Safety of Alirocumab in Adults With Homozygous Familial Hypercholesterolemia: The ODYSSEY HoFH Trial. J Am Coll Cardiol, 2020; 76: 131-142","DOI":"10.1016\/j.jacc.2020.05.027"},{"key":"45","doi-asserted-by":"crossref","unstructured":"46) Harada-Shiba M, Ikewaki K, Nohara A, Otsubo Y, Yanagi K, Yoshida M, Chang Q and Foulds P. Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia. J Atheroscler Thromb, 2017; 24: 402-411","DOI":"10.5551\/jat.38216"},{"key":"46","doi-asserted-by":"crossref","unstructured":"47) Nohara A, Otsubo Y, Yanagi K, Yoshida M, Ikewaki K, Harada-Shiba M and Jurecka A. Safety and Efficacy of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia (HoFH): Results from the AEGR-733-301 Long-Term Extension Study. J Atheroscler Thromb, 2019; 26: 368-377","DOI":"10.5551\/jat.45708"},{"key":"47","doi-asserted-by":"crossref","unstructured":"48) Aljenedil S, Alothman L, B\u00e9langer AM, Brown L, Lahijanian Z, Bergeron J, Couture P, Baass A, Ruel I, Brisson D, Khoury E, Gaudet D, Genest J. Lomitapide for treatment of homozygous familial hypercholesterolemia: The Quebec experience. Atherosclerosis, 2020; 310: 54-63","DOI":"10.1016\/j.atherosclerosis.2020.07.028"},{"key":"48","doi-asserted-by":"crossref","unstructured":"49) Underberg JA, Cannon CP, Larrey D, Makris L, Blom D, Phillips H. Long-term safety and efficacy of lomitapide in patients with homozygous familial hypercholesterolemia: Five-year data from the Lomitapide Observational Worldwide Evaluation Registry (LOWER). J Clin Lipidol, 2020; 14: 807-817","DOI":"10.1016\/j.jacl.2020.08.006"},{"key":"49","doi-asserted-by":"crossref","unstructured":"50) Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. Arterioscler Thromb Vasc Biol, 1999; 19: 1950-1955","DOI":"10.1161\/01.ATV.19.8.1950"},{"key":"50","doi-asserted-by":"crossref","unstructured":"51) Makino H, Koezuka R, Tamanaha T, Ogura M, Matsuki K, Hosoda K and Harada-Shiba M. Familial Hypercholesterolemia and Lipoprotein Apheresis. J Atheroscler Thromb, 2019; 26: 679-687","DOI":"10.5551\/jat.RV17033"},{"key":"51","doi-asserted-by":"crossref","unstructured":"52) Luirink IK, Determeijer J, Hutten BA, Wiegman A, Bruckert E, Schmitt CP, Groothoff JW. Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: A systematic review. J Clin Lipidol, 2019; 13: 31-39","DOI":"10.1016\/j.jacl.2018.10.011"},{"key":"52","doi-asserted-by":"crossref","unstructured":"53) Luirink IK, Hutten BA, Greber-Platzer S, Kolovou GD, Dann EJ, de Ferranti SD, Taylan C, Bruckert E, Saheb S, Oh J, Driemeyer J, Farnier M, Pape L, Schmitt CP, Novoa FJ, Maeser M, Masana L, Shahrani A, Wiegman A, Groothoff JW. Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry. Atherosclerosis, 2020; 299: 24-31","DOI":"10.1016\/j.atherosclerosis.2020.01.031"},{"key":"53","doi-asserted-by":"crossref","unstructured":"54) von Bauer R, Oikonomou D, Sulaj A, Kopf S, Fleming T, Rudofsky G, Nawroth P. Pleiotropic Effect of Lipoprotein-Apheresis on the Soluble Form of Activated Leukocyte Cell Adhesion Molecule (sALCAM) in Familial Hypercholesterolaemia. Exp Clin Endocrinol Diabetes, 2019; 127: 276-280","DOI":"10.1055\/a-0630-0232"},{"key":"54","doi-asserted-by":"crossref","unstructured":"55) Ramunni A, Burzo M, Vern\u00f2 L, Brescia P. Pleiotropic effects of LDL apheresis. Atheroscler Suppl, 2009; 10: 53-55","DOI":"10.1016\/S1567-5688(09)71811-2"},{"key":"55","doi-asserted-by":"crossref","unstructured":"56) Lappeg\u00e5rd KT, Enebakk T, Thunhaug H, Ludviksen JK, Mollnes TE, Hovland A. LDL apheresis activates the complement system and the cytokine network, whereas PCSK9 inhibition with evolocumab induces no inflammatory response. J Clin Lipidol, 2016; 10: 1481-1487","DOI":"10.1016\/j.jacl.2016.09.001"},{"key":"56","doi-asserted-by":"crossref","unstructured":"57) Cephus CE, Qureshi AM, Sexson Tejtel SK, Alam M, Moodie DS. Coronary artery disease in a child with homozygous familial hypercholesterolemia: Regression after liver transplantation. J Clin Lipidol, 2019; 13: 880-886","DOI":"10.1016\/j.jacl.2019.09.007"},{"key":"57","doi-asserted-by":"crossref","unstructured":"58) Ishigaki Y, Kawagishi N, Hasegawa Y, Sawada S, Katagiri H, Satomi S, Oikawa S. Liver Transplantation for Homozygous Familial Hypercholesterolemia. J Atheroscler Thromb, 2019; 26: 121-127","DOI":"10.5551\/jat.RV17029"},{"key":"58","doi-asserted-by":"crossref","unstructured":"59) Botha TC, Pilcher GJ, Wolmarans K, Blom DJ, Raal FJ. Statins and other lipid-lowering therapy and pregnancy outcomes in homozygous familial hypercholesterolaemia: A retrospective review of 39 pregnancies. Atherosclerosis, 2018; 277: 502-507","DOI":"10.1016\/j.atherosclerosis.2018.05.038"},{"key":"59","doi-asserted-by":"crossref","unstructured":"60) Ogura M, Makino H, Kamiya C, Yoshimatsu J, Soran H, Eatough R, Perrone G, Harada-Shiba M and Stefanutti C. Lipoprotein apheresis is essential for managing pregnancies in patients with homozygous familial hypercholesterolemia: Seven case series and discussion. Atherosclerosis, 2016; 254: 179-183","DOI":"10.1016\/j.atherosclerosis.2016.10.018"},{"key":"60","doi-asserted-by":"crossref","unstructured":"61) Raal FJ, Kallend D, Ray KK, Turner T, Koenig W, Wright RS, Wijngaard PLJ, Curcio D, Jaros MJ, Leiter LA, Kastelein JJP; ORION-9 Investigators. Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia. N Engl J Med, 2020; 382: 1520-1530","DOI":"10.1056\/NEJMoa1913805"},{"key":"61","doi-asserted-by":"crossref","unstructured":"62) Raal FJ, Rosenson RS, Reeskamp LF, Hovingh GK, Kastelein JJP, Rubba P, Ali S, Banerjee P, Chan KC, Gipe DA, Khilla N, Pordy R, Weinreich DM, Yancopoulos GD, Zhang Y, Gaudet D; ELIPSE HoFH Investigators. Evinacumab for Homozygous Familial Hypercholesterolemia. N Engl J Med, 2020; 383: 711-720","DOI":"10.1056\/NEJMoa2004215"},{"key":"62","doi-asserted-by":"crossref","unstructured":"63) Harada-Shiba M, Ali S, Gipe DA, Gasparino E, Son V, Zhang Y, Pordy R, Catapano AL. A randomized study investigating the safety, tolerability, and pharmacokinetics of evinacumab, an ANGPTL3 inhibitor, in healthy Japanese and Caucasian subjects. Atherosclerosis, 2020; 314: 33-40","DOI":"10.1016\/j.atherosclerosis.2020.10.013"},{"key":"63","doi-asserted-by":"crossref","unstructured":"64) Raal FJ, Santos RD, Blom DJ, Marais AD, Charng MJ, Cromwell WC, Lachmann RH, Gaudet D, Tan JL, Chasan-Taber S, Tribble DL, Flaim JD, Crooke ST. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial. Lancet, 2010; 375: 998-1006","DOI":"10.1016\/S0140-6736(10)60284-X"},{"key":"64","doi-asserted-by":"crossref","unstructured":"65) Luirink IK, Wiegman A, Kusters DM, Hof MH, Groothoff JW, de Groot E, Kastelein JJP, Hutten BA. 20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. N Engl J Med, 2019; 381: 1547-1556","DOI":"10.1056\/NEJMoa1816454"},{"key":"65","doi-asserted-by":"crossref","unstructured":"66) Tada H, Okada H, Nomura A, Nohara A, Yamagishi M, Takamura M, Kawashiri MA. Prognostic Impact of Cascade Screening for Familial Hypercholesterolemia on Cardiovascular Events. J Clin Lipidol, 2021 in press","DOI":"10.1016\/j.jacl.2020.12.012"},{"key":"66","doi-asserted-by":"crossref","unstructured":"67) Representatives of the Global Familial Hypercholesterolemia Community, Wilemon KA, Patel J, Aguilar-Salinas C, Ahmed CD, Alkhnifsawi M, Almahmeed W, Alonso R, Al-Rasadi K, Badimon L, Bernal LM, Bogsrud MP, Braun LT, Brunham L, Catapano AL, Cill\u00edkov\u00e1 K, Corral P, Cuevas R, Defesche JC, Descamps OS, de Ferranti S, Eisel\u00e9 JL, Elikir G, Folco E, Freiberger T, Fuggetta F, Gaspar IM, Gesztes \u00c1G, Gro\u0161elj U, Hamilton-Craig I, Hanauer-Mader G, Harada-Shiba M, Hastings G, Hovingh GK, Izar MC, Jamison A, Karlsson GN, Kayik\u00e7ioglu M, Koob S, Koseki M, Lane S, Lima-Martinez MM, L\u00f3pez G, Martinez TL, Marais D, Marion L, Mata P, Maurina I, Maxwell D, Mehta R, Mensah GA, Miserez AR, Neely D, Nicholls SJ, Nohara A, Nordestgaard BG, Ose L, Pallidis A, Pang J, Payne J, Peterson AL, Popescu MP, Puri R, Ray KK, Reda A, Sampietro T, Santos RD, Schalkers I, Schreier L, Shapiro MD, Sijbrands E, Soffer D, Stefanutti C, Stoll M, Sy RG, Tamayo ML, Tilney MK, Tokg\u00f6zoglu L, Tomlinson B, Vallejo-Vaz AJ, Vazquez-C\u00e1rdenas A, de Luca PV, Wald DS, Watts GF, Wenger NK, Wolf M, Wood D, Zegerius A, Gaziano TA, Gidding SS. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action. JAMA Cardiol, 2020; 5: 217-229","DOI":"10.1001\/jamacardio.2019.5173"},{"key":"67","doi-asserted-by":"crossref","unstructured":"68) Wu X, Pang J, Wang X, Peng J, Chen Y, Wang S, Watts GF, Lin J. Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families. Clin Cardiol, 2017; 40: 1169-1173","DOI":"10.1002\/clc.22809"},{"key":"68","doi-asserted-by":"crossref","unstructured":"69) Vinson A, Guerra L, Hamilton L, Wilson DP. Reverse Cascade Screening for Familial Hypercholesterolemia. J Pediatr Nurs, 2019; 44: 50-55","DOI":"10.1016\/j.pedn.2018.09.011"},{"key":"69","doi-asserted-by":"crossref","unstructured":"70) P\u00e9rez de Isla L, Alonso R, Mata N, Fern\u00e1ndez-P\u00e9rez C, Mu\u00f1iz O, D\u00edaz-D\u00edaz JL, Saltijeral A, Fuentes-Jim\u00e9nez F, de Andr\u00e9s R, Zamb\u00f3n D, Piedecausa M, Cepeda JM, Mauri M, Galiana J, Brea \u00c1, Sanchez Mu\u00f1oz-Torrero JF, Padr\u00f3 T, Argueso R, Miramontes-Gonz\u00e1lez JP, Badim\u00f3n L, Santos RD, Watts GF, Mata P. Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study). Circulation, 2017; 135: 2133-2144","DOI":"10.1161\/CIRCULATIONAHA.116.024541"},{"key":"70","doi-asserted-by":"crossref","unstructured":"71) Ceska R, Latkovskis G, Ezhov MV, Freiberger T, Lalic K, Mitchenko O, Paragh G, Petrulioniene Z, Pojskic B, Raslova K, Shek AB, Vohnout B, Altschmiedova T, Todorovova V. The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project. Curr Atheroscler Rep, 2019; 21: 36","DOI":"10.1007\/s11883-019-0797-3"},{"key":"71","doi-asserted-by":"crossref","unstructured":"72) Tada H, Okada H, Yoshida S, Shimojima M, Nomura A, Tsuda T, Mori M, Takashima SI, Kato T, Usui S, Sakata K, Hayashi K, Fujino N, Inazu A, Takahara S, Imai Y, Matsubara T, Nohara A, Miwa K, Namura M, Terai H, Yoshida T, Araki T, Minamoto M, Aburao T, Ito Y, Nakanishi C, Kawasaki S, Todo Y, Koizumi J, Kita Y, Matsumoto H, Shintaku H, Hodatsu A, Ino H, Higashikata T, Takata M, Misawa K, Yamaguchi M, Noji Y, Osato K, Mabuchi T, Ichise T, Kaku B, Katsuda S, Fujimoto M, Uchiyama K, Fujioka K, Nakahashi T, Nozue T, Michishita I, Usuda K, Otowa K, Okeie K, Hirota S, Aburadani I, Kurokawa K, Takatori O, Hondo S, Oda H, Takata S, Murai H, Kinoshita M, Nagai H, Sekiguchi Y, Sakagami S, Omi W, Fujita C, Katsuki T, Ootsuji H, Igarashi A, Nakano M, Okura S, Maeno K, Mitamura Y, Sugimoto N, Yamamoto M, Akao H, Kajinami K, Takamura M, Kawashiri MA. Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design. BMJ Open, 2020; 10: e038623","DOI":"10.1136\/bmjopen-2020-038623"},{"key":"72","doi-asserted-by":"crossref","unstructured":"73) Duell PB, Gidding SS, Andersen RL, Knickelbine T, Anderson L, Gianos E, Shrader P, Kindt I, O'Brien EC, McCann D, Hemphill LC, Ahmed CD, Martin SS, Larry JA, Ahmad ZS, Kullo IJ, Underberg JA, Guyton J, Thompson P, Wilemon K, Roe MT, Rader DJ, Cuchel M, Linton MF, Shapiro MD, Moriarty PM, Knowles JW. Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry. Atherosclerosis, 2019; 289: 85-93","DOI":"10.1016\/j.atherosclerosis.2019.08.007"},{"key":"73","unstructured":"74) Alves AC, Alonso R, Diaz-Diaz JL, Medeiros AM, Jannes CE, Merchan A, Vasques-Cardenas NA, Cuevas A, Chacra AP, Krieger JE, Arroyo R, Arrieta F, Schreier L, Corral P, Ba\u00f1ares VG, Araujo MB, Bustos P, Asenjo S, Stoll M, Dell'Oca N, Reyes M, Ressia A, Campo R, Maga\u00f1a-Torres MT, Metha R, Aguilar-Salinas CA, Ceballos-Macias JJ, Morales \u00c1JR, Mata P, Bourbon M, Santos RD. Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica. Arterioscler Thromb Vasc Biol, 2020; 40: 2508-2515"},{"key":"74","doi-asserted-by":"crossref","unstructured":"75) Mehta R, Martagon AJ, Galan Ramirez GA, Antonio-Villa NE, Vargas-V\u00e1zquez A, Elias-Lopez D, Gonzalez-Retana G, Rodr\u00edguez-Encinas B, Ceballos-Mac\u00edas JJ, Romero-Zazueta A, Martinez-Alvarado R, Morales-Portano JD, Alvarez-Lopez H, Sauque-Reyna L, Gomez-Herrera LG, Simental-Mendia LE, Garcia-Aguilar H, Ramirez-Cooremans E, Pe\u00f1a-Aparicio B, Mendoza-Zubieta V, Carrillo-Gonzalez PA, Ferreira-Hermosillo A, Caracas-Portilla N, Jimenez-Dominguez G, Ruiz-Garcia AY, Arriaga-Cazares HE, Gonzalez-Gonzalez JR, Mendez-Valencia CV, Padilla FG, Madriz-Prado R, De Los Rios-Ibarra MO, Vazquez-Cardenas A, Arjona-Villica\u00f1a RD, Acevedo-Rivera KJ, Allende-Carrera R, Alvarez JA, Amezcua-Martinez JC, de Los Reyes Barrera-Bustillo M, Carazo-Vargas G, Contreras-Chacon R, Figueroa-Andrade MH, Flores-Ortega A, Garcia-Alcala H, Garcia de Leon LE, Garcia-Guzman B, Gardu\u00f1o-Garcia JJ, Garnica-Cuellar JC, Gomez-Cruz JR, Hernandez-Garcia A, Holguin-Almada JR, Juarez-Herrera U, Lugo-Sobrevilla F, Marquez-Rodriguez E, Martinez-Sibaja C, Medrano-Rodriguez AB, Morales-Oyervides JC, Perez-Vazquez DI, Reyes-Rodriguez EA, Robles-Osorio ML, Rosas-Saucedo J, Torres-Tamayo M, Valdez-Talavera LA, Vera-Arroyo LE, Zepeda-Carrillo EA, Aguilar-Salinas CA; Mexican Familial Hypercholesterolemia Group. Familial hypercholesterolemia in Mexico: Initial insights from the national registry. J Clin Lipidol, 2021 in press","DOI":"10.1016\/j.jacl.2020.12.001"},{"key":"75","doi-asserted-by":"crossref","unstructured":"76) de Ferranti SD, Shrader P, Linton MF, Knowles JW, Hudgins LC, Benuck I, Kindt I, O'Brien EC, Peterson AL, Ahmad ZS, Clauss S, Duell PB, Shapiro MD, Wilemon K, Gidding SS, Neal W. Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry. J Pediatr, 2021; 229: 70-77","DOI":"10.1016\/j.jpeds.2020.09.042"}],"container-title":["Journal of Atherosclerosis and Thrombosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jat\/advpub\/0\/advpub_RV17050\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,24]],"date-time":"2021-04-24T03:42:18Z","timestamp":1619235738000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jat\/advpub\/0\/advpub_RV17050\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":75,"URL":"https:\/\/doi.org\/10.5551\/jat.rv17050","relation":{},"ISSN":["1340-3478","1880-3873"],"issn-type":[{"value":"1340-3478","type":"print"},{"value":"1880-3873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}