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Titolo:
Coexisting dysbetalipoproteinemia and familial hypercholesterolemia - Clinical and laboratory observations
Autore:
Carmena, R; Roy, M; Roederer, G; Minnich, A; Davignon, J;
Indirizzi:
Clin Res Inst Montreal, Hyperlipidemia & Atherosclerosis Res Grp, Montreal, PQ H2W 1R7, Canada Clin Res Inst Montreal Montreal PQ Canada H2W 1R7 eal, PQ H2W 1R7, Canada Univ Valencia, Hosp Clin, Endocrine Serv, Valencia, Spain Univ Valencia Valencia Spain Hosp Clin, Endocrine Serv, Valencia, Spain
Titolo Testata:
ATHEROSCLEROSIS
fascicolo: 1, volume: 148, anno: 2000,
pagine: 113 - 124
SICI:
0021-9150(200001)148:1<113:CDAFH->2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
APOLIPOPROTEIN-E POLYMORPHISM; DENSITY-LIPOPROTEIN RECEPTOR; CORONARY-ARTERY DISEASE; III HYPERLIPOPROTEINEMIA; FRENCH CANADIANS; CAROTID ARTERIES; GENE; ATHEROSCLEROSIS; ASSOCIATION; METABOLISM;
Keywords:
dysbetalipoproteinemia; familial hypercholesterolemia; phenotypic expression; atherosclerotic vascular disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Roy, M Clin Res Inst Montreal, Hyperlipidemia & Atherosclerosis Res Grp, 110 PineAve W, Montreal, PQ H2W 1R7, Canada Clin Res Inst Montreal 110 Pine Ave W Montreal PQ Canada H2W 1R7 da
Citazione:
R. Carmena et al., "Coexisting dysbetalipoproteinemia and familial hypercholesterolemia - Clinical and laboratory observations", ATHEROSCLER, 148(1), 2000, pp. 113-124

Abstract

Type III dysbetalipoproteinemia and familial hypercholesterolemia (FH) aretwo metabolic disorders giving rise to severe disturbances of lipid homeostasis and premature atherosclerosis. Both metabolic abnormalities have a genetic basis and co-occurrence in the same patient has seldom been described. Because of the unique structure of the French Canadian population, there was an opportunity to observe patients with both dysbetalipoproteinemia (E2/2 homozygotes) and FH (N= 14) and to compare their clinical data with thatof patients with type III (N= 75), patients with FH (N= 42). The E2/2-FH patients displayed clinical features of both metabolic disorders: palmar, Achilles and/or extensor tendon xanthomas, a prevalence of coronary artery disease (CAD) equal to that seen in type III, but lower than that observed inFH and a high prevalence of peripheral vascular disease (PVD) in both genders. A higher prevalence of carotid disease than that observed in the two other conditions was seen in women only. In men, total cholesterol level wassimilar to that observed in FH, but higher than in type III, whereas in women, it was not different among the three groups. In both genders, triglycerides (TG) and low density lipoprotein cholesterol (LDL-C) levels were intermediate between type III and FH, with a very low density lipoprotein-cholesterol (VLDL-C)/TG ratio > 0.7 and the presence of beta-VLDL on electrophoresis. Presence of a low density lipoprotein receptor, LDL-R, mutation should be suspected in a type III patient with a LDL-C level above 3.0 mmol/l and a family history of premature CAD. In the group of patients studied, The coexistence of dysbetalipoproteinemia and heterozygous FH does not appear to increase the prevalence of cardiovascular complications above that observed among control type III or control E3/3-FH patients. Thus, the presence of two epsilon 2 alleles in these patients affects the expression of the abnormal LDL-R allele and the resulting phenotype substantiates the non additive effects of alleles at these two loci (epistasis). (C) 2000 Elsevier Science Ireland Ltd. AII rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 18:46:52