A Phenocopy of Type III Dysbetalipoproteinemia Occurring in a Candidate Family for a Putative Apo E Receptor Defect
| Autor: | Jean-Charles Fruchart, Daniel Bouthillier, Jean Davignon, Ghislaine Roederer, Suzanne Lussier-Cacan, Madeleine Roy, J. Dallongeville, Anna M. Kessling |
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| Rok vydání: | 1991 |
| Předmět: |
Adult
Male Apolipoprotein E medicine.medical_specialty Very low-density lipoprotein Apolipoprotein B medicine.drug_class Lipoproteins Receptors Cell Surface Fibrate chemistry.chemical_compound Apolipoproteins E Internal medicine Hyperlipoproteinemia Type III medicine Humans Receptor Triglycerides Phenocopy biology Cholesterol General Medicine Middle Aged Phenotype Endocrinology chemistry biology.protein Female lipids (amino acids peptides and proteins) Low Density Lipoprotein Receptor-Related Protein-1 Lipoprotein |
| Zdroj: | Annals of Medicine. 23:161-167 |
| ISSN: | 1365-2060 0785-3890 |
| DOI: | 10.3109/07853899109148042 |
| Popis: | On theoretical grounds, an apo E receptor defect should be manifested by the accumulation of lipoprotein remnants that are normally cleared by this receptor and cannot be processed by the normal apo B, E receptor (LDL-receptor). Furthermore, the defect should not be selective for a specific apo E phenotype since none of the isoforms would be cleared preferentially. Our search for such an occurrence led us to the discovery, in five members of a family of ten, of a unique dyslipoproteinemia mimicking type III. As in type III, plasma levels of cholesterol, triglycerides, VLDL-cholesterol, VLDL-triglycerides and apo E, as well as the VLDL-C/TG ratio, were high. LDL-cholesterol and HDL-cholesterol tended to be low. The clearance of plasma triglycerides after a fat load was impaired. Tubero-eruptive xanthomas, arcus corneae and manifestations of atherosclerosis were present in some individuals. In contrast to type III, the dyslipoproteinemia occurred in subjects bearing three different apo E phenotypes: E4/2, E4/3 and E3/2. VLDL-apo B levels were markedly increased, the VLDL-C/VLDL-B ratio was low and a double pre-beta band was present on lipoprotein electrophoresis. In spite of high apo E and borderline high apo CIII plasma levels, levels of the lipoprotein particles LpCIII:B and LpE:B, which characterize type III, were not raised. Rapid weight loss or treatment with a fibrate was observed to normalize the lipoprotein profile. It is surmised that the apo E-rich lipoprotein particles accumulating in this type III phenocopy with "hyperapoprebetalipoproteinemia" could be those that are normally cleared by an apo E receptor. |
| Databáze: | OpenAIRE |
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