title: Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects.
abstract: A case-finding program for the identification of patients with familial hypercholesterolemia (FH) has been established in Spain. The program is based on family investigation and molecular genetic testing for mutations in the low-density lipoprotein receptor gene. To assist this program, intensive research into the molecular basis of FH and genotype/phenotype relations is performed. To optimize DNA testing, a DNA-diagnostic platform has been constructed that is composed of systematic mutation screening by single-strand conformation polymorphism (SSCP) analysis, DNA-sequencing, Southern blotting, and the use of microarrays for high-throughput analysis. To date, 161 different mutations leading to inherited hypercholesterolemia have been identified in Spanish patients with FH. In addition, a patient organization was founded to ensure patient support and follow-up. To further facilitate FH case-finding and patient follow-up, we initiated the publication of a set of guidelines for diagnosis and clinical management of FH that can be applied internationally.
authors.affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain. mpocovi@unizar.es
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocovi
authors.forename: Fernando
authors.initials: F
authors.lastname: Civeira
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
mesh_terms: D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D013030:Spain / Q000453:epidemiology