著者

Mariko Harada-Shiba Hidenori Arai Yasushi Ishigaki Shun Ishibashi Tomonori Okamura Masatsune Ogura Kazushige Dobashi Atsushi Nohara Hideaki Bujo Katsumi Miyauchi Shizuya Yamashita Koutaro Yokote Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia

出版者

Japan Atherosclerosis Society

雑誌

Journal of Atherosclerosis and Thrombosis (ISSN:13403478)

巻号頁・発行日

pp.CR003, (Released:2018-06-07)

参考文献数

74

被引用文献数

166

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Statement1. Familial hypercholesterolemia (FH) is an autosomal hereditary disease with the 3 major clinical features of hyper-LDL-cholesterolemia, premature coronary artery disease and tendon and skin xanthomas. As there is a considerably high risk of coronary artery disease, in addition to early diagnosis and intensive treatment, family screening (cascade screening) is required (Recommendation level A)2.For a diagnosis of FH, at least 2 of the following criteria should be satisfied:① LDL-C ≥180 mg/dL, ② Tendon/skin xanthomas, ③ History of FH or premature coronary artery disease (CAD) within 2nd degree blood relatives (Recommendation level A)3. Intensive lipid-lowering therapy is necessary for the treatment of FH. First-line drug should be statin. (Recommendation level A, evidence level 3)4.Screening for coronary artery disease as well as asymptomatic atherosclerosis should be conducted periodically in FH patients. (Recommendation level A)5. For homozygous FH, consider LDL apheresis and treatment with PCSK9 inhibitors or MTP inhibitors. (Recommendation level A)6.For severe forms of heterozygous FH who have resistant to drug therapy, consider PCSK9 inhibitors and LDL apheresis. (Recommendation level A)7.Refer FH homozygotes as well as heterozygotes who are resistant to drug therapy, who are children or are pregnant or have the desire to bear children to a specialist. (Recommendation level A)

著者

Makoto Kinoshita Koutaro Yokote Hidenori Arai Mami Iida Yasushi Ishigaki Shun Ishibashi Seiji Umemoto Genshi Egusa Hirotoshi Ohmura Tomonori Okamura Shinji Kihara Shinji Koba Isao Saito Tetsuo Shoji Hiroyuki Daida Kazuhisa Tsukamoto Juno Deguchi Seitaro Dohi Kazushige Dobashi Hirotoshi Hamaguchi Masumi Hara Takafumi Hiro Sadatoshi Biro Yoshio Fujioka Chizuko Maruyama Yoshihiro Miyamoto Yoshitaka Murakami Masayuki Yokode Hiroshi Yoshida Hiromi Rakugi Akihiko Wakatsuki Shizuya Yamashita Committee for Epidemiology and Clinical Management of Atherosclerosis

出版者

Japan Atherosclerosis Society

雑誌

Journal of Atherosclerosis and Thrombosis (ISSN:13403478)

巻号頁・発行日

vol.25, no.9, pp.846-984, 2018-09-01 (Released:2018-09-01)

参考文献数

999

被引用文献数

347 524

著者

Hayato Tada Akihiro Nomura Masatsune Ogura Katsunori Ikewaki Yasushi Ishigaki Kyoko Inagaki Kazuhisa Tsukamoto Kazushige Dobashi Kimitoshi Nakamura Mika Hori Kota Matsuki Shizuya Yamashita Shinji Yokoyama Masa-aki Kawashiri Mariko Harada-Shiba on behalf of the Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Desease of the Ministry of Health Labour and Welfare of Japan

出版者

Japan Atherosclerosis Society

雑誌

Journal of Atherosclerosis and Thrombosis (ISSN:13403478)

巻号頁・発行日

pp.RV17052, (Released:2021-04-28)

参考文献数

56

被引用文献数

36

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Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols from the liver and intestine, leading to failure to prevent absorption of food plant sterols. This disorder has been considered to be extremely rare. However, accumulated clinical data as well as genetics suggest the possibility of a much higher prevalence. Its clinical manifestations resemble those observed in patients with familial hypercholesterolemia (FH), including tendon xanthomas, hyper LDL-cholesterolemia, and premature coronary atherosclerosis. We provide an overview of this recessive genetic disease, diagnostic as well as therapeutic tips, and the latest diagnostic criteria in Japan.

著者

Atsushi Hozawa Kozo Tanno Naoki Nakaya Tomohiro Nakamura Naho Tsuchiya Takumi Hirata Akira Narita Mana Kogure Kotaro Nochioka Ryohei Sasaki Nobuyuki Takanashi Kotaro Otsuka Kiyomi Sakata Shinichi Kuriyama Masahiro Kikuya Osamu Tanabe Junichi Sugawara Kichiya Suzuki Yoichi Suzuki Eiichi N Kodama Nobuo Fuse Hideyasu Kiyomoto Hiroaki Tomita Akira Uruno Yohei Hamanaka Hirohito Metoki Mami Ishikuro Taku Obara Tomoko Kobayashi Kazuyuki Kitatani Takako Takai-Igarashi Soichi Ogishima Mamoru Satoh Hideki Ohmomo Akito Tsuboi Shinichi Egawa Tadashi Ishii Kiyoshi Ito Sadayoshi Ito Yasuyuki Taki Naoko Minegishi Naoto Ishii Masao Nagasaki Kazuhiko Igarashi Seizo Koshiba Ritsuko Shimizu Gen Tamiya Keiko Nakayama Hozumi Motohashi Jun Yasuda Atsushi Shimizu Tsuyoshi Hachiya Yuh Shiwa Teiji Tominaga Hiroshi Tanaka Kotaro Oyama Ryoichi Tanaka Hiroshi Kawame Akimune Fukushima Yasushi Ishigaki Tomoharu Tokutomi Noriko Osumi Tadao Kobayashi Fuji Nagami Hiroaki Hashizume Tomohiko Arai Yoshio Kawaguchi Shinichi Higuchi Masaki Sakaida Ryujin Endo Satoshi Nishizuka Ichiro Tsuji Jiro Hitomi Motoyuki Nakamura Kuniaki Ogasawara Nobuo Yaegashi Kengo Kinoshita Shigeo Kure Akio Sakai Seiichiro Kobayashi Kenji Sobue Makoto Sasaki Masayuki Yamamoto

出版者

Japan Epidemiological Association

雑誌

Journal of Epidemiology (ISSN:09175040)

巻号頁・発行日

vol.31, no.1, pp.65-76, 2021-01-05 (Released:2021-01-05)

参考文献数

34

被引用文献数

54 66

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Background: We established a community-based cohort study to assess the long-term impact of the Great East Japan Earthquake on disaster victims and gene-environment interactions on the incidence of major diseases, such as cancer and cardiovascular diseases.Methods: We asked participants to join our cohort in the health check-up settings and assessment center based settings. Inclusion criteria were aged 20 years or over and living in Miyagi or Iwate Prefecture. We obtained information on lifestyle, effect of disaster, blood, and urine information (Type 1 survey), and some detailed measurements (Type 2 survey), such as carotid echography and calcaneal ultrasound bone mineral density. All participants agreed to measure genome information and to distribute their information widely.Results: As a result, 87,865 gave their informed consent to join our study. Participation rate at health check-up site was about 70%. The participants in the Type 1 survey were more likely to have psychological distress than those in the Type 2 survey, and women were more likely to have psychological distress than men. Additionally, coastal residents were more likely to have higher degrees of psychological distress than inland residents, regardless of sex.Conclusion: This cohort comprised a large sample size and it contains information on the natural disaster, genome information, and metabolome information. This cohort also had several detailed measurements. Using this cohort enabled us to clarify the long-term effect of the disaster and also to establish personalized prevention based on genome, metabolome, and other omics information.

著者

Hayato Tada Hirofumi Okada Akihiro Nomura Satoshi Yashiro Atsushi Nohara Yasushi Ishigaki Masayuki Takamura Masa-aki Kawashiri

出版者

The Japanese Circulation Society

雑誌

Circulation Journal (ISSN:13469843)

巻号頁・発行日

vol.83, no.9, pp.1917-1924, 2019-08-23 (Released:2019-08-23)

参考文献数

21

被引用文献数

55 54

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Background:A substantial proportion of patients clinically diagnosed as having familial hypercholesterolemia (FH) do not manifest causative mutation(s) in the FH genes such asLDLR,APOB, andPCSK9. We aimed to evaluate the effect of rare and deleterious mutation(s) inABCG5/ABCG8on hyper-low-density lipoprotein (LDL) cholesterolemia in individuals who meet the clinical criteria for FH.Methods and Results:We compared the LDL cholesterol (LDL-C) values among 487 subjects with FH; the subjects were grouped according to the presence of mutation(s) in FH andABCG5/ABCG8genes. We identified 276 individuals with a deleterious mutation in 1 FH gene (57%, monogenic FH), but found no causative mutations in 156 individuals (32%, mutation-negative). A total of 37 individuals had deleterious mutations inABCG5orABCG8, but not in FH genes (8%,ABCG5/ABCG8mutation carriers). Among these, 3 individuals had sitosterolemia (0.6%) with double mutations. We also identified 18 individuals with deleterious mutations in an FH gene andABCG5orABCG8(4%,ABCG5/ABCG8-oligogenic FH). Subjects without mutations had significantly higher polygenic scores than those in any other groups. LDL-C levels in oligogenic FH subjects were significantly higher than in the monogenic FH subjects. Moreover, sitosterol/lathosterol levels were significantly affected by those mutations.Conclusions:The results suggested that rare and deleterious mutations inABCG5/ABCG8contribute substantially to mimicking and exacerbation of the FH phenotype.