Abstract
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.
Highlights
Abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) are extremely rare recessive forms of hypobetalipoproteinemia characterized by intestinal lipid malabsorption and severe vitamin E deficiency
We have previously established reference intervals for -tocopherol in plasma, red blood cell (RBC), and adipose tissue (AT) in healthy children aged 1 month to 18 years, and we have shown that they were suitable and relevant indicators to provide an overview of vitamin E status in CMRD [19]
The protocol consisted of five visits: 1) an inclusion visit (V0) to initiate a washout period of 2 months without any tocopherol treatment; 2) a visit (V1) to administer an oral load of either -tocopherol acetate or tocofersolan depending on the randomized group, followed by a 4 month period of treatment with the same molecule; 3) an end of treatment visit (V2) followed by a second 2 month washout; 4) a visit (V3) with an oral load and a 4 month treatment with the other molecule; and 5) an end of study visit (V4)
Summary
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- -tocopherol) and -tocopherol acetate, to three patients with ABL and four patients with CMRD. Plasma concentrations of -tocopherol at 4 months were not significantly different by formulation type in ABL or CMRD. Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. The extremely rare (less than one in one million) recessive forms of primary monogenic HBL are represented by abetalipoproteinemia (ABL; MIM 200100) and chylomicron retention disease (CMRD; MIM 246700).
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