Anales de Medicina Interna
versión impresa ISSN 0212-7199
EJARQUE, I. et al. Plasma lipoprotein a values in familial ligand defective apo B 100 in a south European population. An. Med. Interna (Madrid) [online]. 2004, vol.21, n.7, pp.14-19. ISSN 0212-7199.
Aims: 1) to study lipoprotein (a) (Lp(a)) plasma values in subjects with familial ligand-defective apo B 100 (FDB) . Methods: We studied 19 heterozygous FDB subjects (8 males) from 12 families, carriers of R3500Q mutation on apo B gene and 90 controls (34 males). The genetic diagnosis was established with PCR-SSCP analysis and automatic sequencing. In all subjects plasma lipids, apolipoprotein B and Lp(a) levels were determined with standard procedures. Results: Subjects carriers of R3500Q mutation on apo B gene have significantly higher plasma Lp(a) and log transformed Lp(a) values and prevalence of Lp(a) > 30 cut point for coronary heart disease than controls. Conclusions: Subjects with FDB showed higher Lp(a) plasma values than controls, although the mechanism and the clinical consequences of these result are not known.
Palabras clave : Familial ligand defective apo B; Lipoprotein A; Lipid and lipoproteins.