title: Multicenter study to determine the diagnosis criteria of heterozygous familial hypercholesterolemia in Japan.
abstract: OBJECTIVE
  Heterozygous patients of familial hypercholesterolemia (FH) are known to have a high risk of coronary artery disease (CAD). Early diagnosis and prompt treatment are necessary to prevent their CAD. In this study we tried to amend the Japanese diagnostic criteria of FH for general practitioners by examining each component of the current criteria.
  
  
  METHODS
  A multicenter study was performed, which included 1356 dyslipidemic patients at 6 centers. Pretreatment demographic information including LDL-cholesterol (LDL-C), Achilles tendon thickness (ATT), family history of FH and premature CAD and the result of genetic analysis were analyzed.
  
  
  RESULTS
  Of 1356 patients, 419 were diagnosed with FH by criteria in 1988, which were used as a golden standard. We tried to define FH according to 3 conventional major items, i.e., 1) LDL-C, 2) ATT and/or cutaneous nodular xanthomas (CX), 3) family history of FH and/or family history of premature CAD. We then determined the cutoff of LDL-C using the new criteria. When we used 180 mg/dL as the cutoff of LDL-C, 94.3% of FH patients and 0.85% of non-FH satisfied 2 or more criteria. When we used 190 mg/dL, 92.1% of FH and 0.85% of non-FH satisfied 2 or more criteria; therefore, we chose 180 mg/dL for the cutoff of LDL-C in the new criteria and proposed that the diagnosis of definite FH can be made if 2 or more criteria are satisfied.
  
  
  CONCLUSIONS
  We examined each component for the diagnosis of heterozygous FH in a multicenter study in Japan.
authors.affiliation: Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan. shiba.mariko.ri@mail.ncvc.go.jp
authors.forename: Mariko
authors.initials: M
authors.lastname: Harada-Shiba
authors.forename: Hidenori
authors.initials: H
authors.lastname: Arai
authors.forename: Tomonori
authors.initials: T
authors.lastname: Okamura
authors.forename: Koutaro
authors.initials: K
authors.lastname: Yokote
authors.forename: Shinichi
authors.initials: S
authors.lastname: Oikawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nohara
authors.forename: Tomoo
authors.initials: T
authors.lastname: Okada
authors.forename: Takao
authors.initials: T
authors.lastname: Ohta
authors.forename: Hideaki
authors.initials: H
authors.lastname: Bujo
authors.forename: Makoto
authors.initials: M
authors.lastname: Watanabe
authors.forename: Akihiko
authors.initials: A
authors.lastname: Wakatsuki
authors.forename: Shizuya
authors.initials: S
authors.lastname: Yamashita
mesh_terms: D000328:Adult; D000368:Aged; D008078:Cholesterol, LDL / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged
chemical_list: D008078:Cholesterol, LDL