Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease

Journal of Lipid Research

Agnès Sassolas¹  Noël Peretti¹  Pierre Poinsot²  Emilie Henin²  Christian Laveille²  Christophe Marçais²  Charlotte Cuerq³  Jocelyne Drai³  Marie-Caroline Michalski³  Mathilde Di Filippo³  Lioara Restier⁴  Philippe Moulin⁴  Emmanuelle Reboul⁵  Emile Levy⁵  Alain Lachaux⁵  Cyrielle Caussy⁵  Emilie Blond⁶  Sybil Charriere⁶ 

[1] Department of Biochemistry and Molecular Biology, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, Bron, France;INSERM U1060, INRA UMR 1397, INSA-Lyon, CarMeN Laboratory, Université Lyon 1, Lyon, France;Biochemistry Department, Lyon Sud Hospital, Hospices Civils de Lyon, Lyon, France;Calvagone, Liergues, France;INSERM U1060, INRA UMR 1397, INSA-Lyon, CarMeN Laboratory, Université Lyon 1, Lyon, France;Pediatric Hepato-Gastroenterology and Nutrition Unit, Hôpital Femme Mère Enfant de Lyon, Dyslipidemia Unity Hospices Civils de Lyon, Lyon, Bron, France;

关键词: metabolic disease;    lipid and lipoprotein metabolism;    absorption;    adipose tissue;    hypocholesterolemia;    Anderson disease;   

DOI  :  

来源: DOAJ

【 摘 要 】

Abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) are extremely rare recessive forms of hypobetalipoproteinemia characterized by intestinal lipid malabsorption and severe vitamin E deficiency. Vitamin E is often supplemented in the form of fat-soluble vitamin E acetate, but fat malabsorption considerably limits correction of the deficiency. In this crossover study, we administered two different forms of vitamin E, tocofersolan (a water-soluble derivative of RRR-α-tocopherol) and α-tocopherol acetate, to three patients with ABL and four patients with CMRD. The aims of this study were to evaluate the intestinal absorption characteristics of tocofersolan versus α-tocopherol acetate by measuring the plasma concentrations of α-tocopherol over time after a single oral load and to compare efficacy by evaluating the ability of each formulation to restore vitamin E storage after 4 months of treatment. In patients with ABL, tocofersolan and α-tocopherol acetate bioavailabilities were extremely low (2.8% and 3.1%, respectively). In contrast, bioavailabilities were higher in patients with CMRD (tocofersolan, 24.7%; α-tocopherol acetate, 11.4%). Plasma concentrations of α-tocopherol at 4 months were not significantly different by formulation type in ABL or CMRD. This study provides new insights about vitamin E status in ABL and CMRD and suggests the potential of different formulations as treatment options.

【 授权许可】

Unknown