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Dietary fat clearance in type V hyperlipoproteinaemia secondary to a rare variant of human apolipoprotein E: the apolipoprotein E3 (Arg 136 → Ser)

Published online by Cambridge University Press:  09 March 2007

Bernard Vialettes ,
Pascal Reynier ,
Catherine Atlan-Gepner ,
Nadia Mekki ,
Laurence Lesluyes-Mazzochi ,
Gérard Luc ,
Denis Lairon  and
Yves Malthiery
Bernard Vialettes*
Affiliation:
Service de Nutrition, Maladies Métaboliques, Endocrinologie, Hôpital Sainte Marguerite, Université de la Méditerranée UPRES EA 2193, Marseille, France
Pascal Reynier
Affiliation:
Laboratoire de Biochimie, Université d'Angers, Angers, France
Catherine Atlan-Gepner
Affiliation:
Service de Nutrition, Maladies Métaboliques, Endocrinologie, Hôpital Sainte Marguerite, Université de la Méditerranée UPRES EA 2193, Marseille, France
Nadia Mekki
Affiliation:
INSERM U476, Marseille, France
Laurence Lesluyes-Mazzochi
Affiliation:
Service de Nutrition, Maladies Métaboliques, Endocrinologie, Hôpital Sainte Marguerite, Université de la Méditerranée UPRES EA 2193, Marseille, France
Gérard Luc
Affiliation:
Institut Pasteur, Lille, France
Denis Lairon
Affiliation:
INSERM U476, Marseille, France
Yves Malthiery
Affiliation:
Laboratoire de Biochimie, Université d'Angers, Angers, France
*
*Corresponding author: Professor B. Vialettes, fax +33 4 91 74 55 03, email bvialett@mail.ap-hm.fr
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Abstract

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This present case report describes two siblings with severe type V hyperlipoproteinaemia, diagnosed very early in life and due to the combination of the common apolipoprotein (Apo) E2 allele and a rare mutant variant of ApoE, ApoE3 (Arg 136 → Ser). Phenotyping of ApoE falsely identified E2/E2 phenotype. The presence of mutated ApoE was suspected on an unusual restriction polymorphism of a Hha 1 restriction site and confirmed by sequence analysis of the cloned polymerase chain reaction fragment of exon 4 and familial segregation study. The severity of the hypertriacylglycerolaemia was modulated by the lipid content of the diet. A low-fat diet enriched in medium-chain triacylglycerol (TAG) decreased but did not normalize plasma TAG levels in both affected patients of the pedigree. A standardized lipid-enriched test meal showed a marked impairment of TAG-rich lipoprotein (TRL) clearance, especially the exogeneous TRL bearing ApoB-48 which still represented 79 % of total TRL 7 h after the fat load. Finally, differences between the male and female siblings with the existence of a consanguine relationship in their parents suggested the involvement of other genetic factors in modulating the severity of phenotypic expression. This observation reinforces the usefulness of genotyping of ApoE for the characterization of genetic hypertriacylglycerolaemia and selection of the appropriate diet and treatment.

Keywords

Apolipoprotein EHypertriacylglycerolaemiaHyperlipoproteinaemiaTriacylglycerol-rich lipoprotein
Type
Research Article
Information
British Journal of Nutrition , Volume 83 , Issue 6 , June 2000 , pp. 615 - 622
Copyright
Copyright © The Nutrition Society 2000

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