2026-03-09T18:26:28Z https://kanazawa-u.repo.nii.ac.jp/oai

oai:kanazawa-u.repo.nii.ac.jp:00014421 2024-06-20T07:09:48Z 1132:1133:1134

Half a century tales of familial hypercholesterolemia (FH) in Japan 馬渕, 宏 Mabuchi, Hiroshi 389 00019960 00019960 Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. To prevent the under-diagnosis and under-treatment of FH, the diagnostic criteria should be more convenient and user-friendly. For a patient with cutaneous or tendon xanthomas, the probability of FH is very high; however, an absence of xanthoma does not rule out FH. Brown and Goldstein elucidated the pathogenesis of FH by their work on LDL-receptor (LDL-R), for which they were awarded the Nobel Prize in 1985. In the 1950s, FH patients were divided into heterozygous (hetero-) and homozygous (homo-) FH, and diagnosing homo- and hetero-FH based on the phenotypic features of ASCVD or xanthomas frequently became difficult without the DNA analysis of FH genes. It is estimated that heterozygous mutations in the LDL-R or the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene will be found at a combined frequency of 0.005, which corresponds to 1/199 people in the general population in Japan. 出版者照会後に全文公開 journal article Japan Atherosclerosis Society = 日本動脈硬化学会 2017-01-01 VoR application/pdf Journal of Atherosclerosis and Thrombosis 3 24 189 207 AA11018976 1340-3478 https://kanazawa-u.repo.nii.ac.jp/record/14421/files/ME-PR-MABUCHI-H-189.pdf https://doi.org/10.24517/00014408 http://hdl.handle.net/2297/47579 https://kanazawa-u.repo.nii.ac.jp/records/14421 eng 10.5551/jat.RV16008 https://www.jstage.jst.go.jp/browse/jat http://www.j-athero.org/ Copyright © Japan Atherosclerosis Society / CC-BY NC SA