title: Guidelines for the management of familial hypercholesterolemia.
abstract: Familial hypercholesterolemia (FH) is a highly prevalent autosomal dominant hereditary disease, generally characterized by three major signs, hyper-low-density-lipoprotein (LDL) cholesterolemia, tendon/skin xanthomas and premature coronary artery disease (CAD). Because the risk of CAD is very high in these patients, they should be identified at an early stage of their lives and started on intensive treatment to control LDL-cholesterol. We here introduce a new guideline for the management of FH patients in Japan intending to achieve better control to prevent CAD. Diagnostic criteria for heterozygous FH are 2 or more of 1) LDL-cholesterol ≥180 mg/dL, 2) tendon/skin xanthoma(s), and 3) family history of FH or premature CAD within second degree relatives, for adults; and to have both 1) LDL-cholesterol ≥140 mg/dL and 2) family history of FH or premature CAD within second degree relatives, for children. For the treatment of adult heterozygous FH, intensive lipid control with statins and other drugs is necessary. Other risks of CAD, such as smoking, diabetes mellitus, hypertension etc., should also be controlled strictly. Atherosclerosis in coronary, carotid, or peripheral arteries, the aorta and aortic valve should be screened periodically. FH in children, pregnant women, and women who wish to bear a child should be referred to specialists. For homozygotes and severe heterozygotes resistant to drug therapies, LDL apheresis should be performed. The treatment cost of homozygous FH is authorized to be covered under the program of Research on Measures against Intractable Diseases by the Japanese Ministry of Health, Labour, and Welfare.
authors.affiliation: Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Harada-Shiba
authors.forename: Hidenori
authors.initials: H
authors.lastname: Arai
authors.forename: Shinichi
authors.initials: S
authors.lastname: Oikawa
authors.forename: Takao
authors.initials: T
authors.lastname: Ohta
authors.forename: Tomoo
authors.initials: T
authors.lastname: Okada
authors.forename: Tomonori
authors.initials: T
authors.lastname: Okamura
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nohara
authors.forename: Hideaki
authors.initials: H
authors.lastname: Bujo
authors.forename: Koutaro
authors.initials: K
authors.lastname: Yokote
authors.forename: Akihiko
authors.initials: A
authors.lastname: Wakatsuki
authors.forename: Shun
authors.initials: S
authors.lastname: Ishibashi
authors.forename: Shizuya
authors.initials: S
authors.lastname: Yamashita
mesh_terms: D000125:Achilles Tendon / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D050197:Atherosclerosis / Q000235:genetics / Q000378:metabolism; D002648:Child; D002784:Cholesterol / Q000378:metabolism; D008078:Cholesterol, LDL / Q000378:metabolism; D003324:Coronary Artery Disease / Q000150:complications; D005192:Family Health; D005260:Female; D017408:Guidelines as Topic; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D007564:Japan; D008055:Lipids / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009203:Myocardial Infarction / Q000150:complications; D012306:Risk; D014973:Xanthomatosis / Q000378:metabolism
chemical_list: D008078:Cholesterol, LDL; D008055:Lipids; D002784:Cholesterol