title: [MED-PED: make early diagnosis--prevent early death].
abstract: The goal of MED-PED, a worldwide program including USA and many countries of Europe, Asia and Australia aims at diagnosing at the DNA level familial hypercholesterolemia (FH). There are currently 2 genetic defects under consideration: the LDL-R defect and familial Apo-B-100 defect (FDB). Whereas currently more than 160 mutations for the LDL-receptor defect are known, which can hamper the straight foreward characterization at the DNA level, FDB is caused by a single point mutation which may be easily characterized by routine methods. Austria participates since January 1st in MED-PED with subcenters in many different regions, which are listed in this article. We expect from the MED-PED program not only an optimation of health care in our country, with respect to preventive medicine, but also as studies from the US demonstrate, a positive cost effectiveness may be reached by this program. MED-PED in Austria is just at the beginning and in a rather preliminary stage, but we hope that after finding sponsors for covering the actual costs, this project will go on to a more advanced stage.
authors.affiliation: Institut für Medizinische Biochemie, Universität Graz.
authors.forename: G M
authors.initials: GM
authors.lastname: Kostner
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D001317:Austria; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000517:prevention & control*; D008403:Mass Screening; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D011973:Receptors, LDL
vernacular_title: MED-PED: Make Early Diagnosis-Prevent Early Death.