title: Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.
abstract: Familial hypercholesterolaemia (FH) is an autosomal co-dominantly inherited condition resulting from mutations of the low-density lipoprotein (LDL) receptor which occur in heterozygous form in approximately one in 500 individuals. Clinically, FH is characterized by 2-3-fold elevation of serum LDL cholesterol levels, accelerated development of atherosclerotic vascular disease, and, if untreated, shortened lifespan. The Finnish population, which represents a genetic isolate, offers exceptional possibilities for genetic-epidemiological studies on FH, as a handful of founder gene mutations account for the majority of FH cases in Finland. This review summarizes data from our FH studies carried out since 1985. We wish to emphasize the continuum of genotype-phenotype relationships, the importance of molecular diagnosis, the detection of novel risk factors of vascular disease, and innovations inhibiting cholesterol absorption for the modern treatment of FH.
authors.affiliation: Department of Medicine, University of Helsinki, Finland.
authors.forename: A F
authors.initials: AF
authors.lastname: Vuorio
authors.forename: K
authors.initials: K
authors.lastname: Aalto-Setälä
authors.forename: U M
authors.initials: UM
authors.lastname: Koivisto
authors.forename: H
authors.initials: H
authors.lastname: Turtola
authors.forename: H
authors.initials: H
authors.lastname: Nissen
authors.forename: P T
authors.initials: PT
authors.lastname: Kovanen
authors.forename: T A
authors.initials: TA
authors.lastname: Miettinen
authors.forename: H
authors.initials: H
authors.lastname: Gylling
authors.forename: H
authors.initials: H
authors.lastname: Oksanen
authors.forename: K
authors.initials: K
authors.lastname: Kontula
mesh_terms: D017668:Age of Onset; D002872:Chromosome Deletion; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics; D004252:DNA Mutational Analysis; D005387:Finland / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D017720:Molecular Epidemiology; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL