title: Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.
abstract: Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are genetic diseases characterized by low density lipoprotein deficiency. ABL presents early in life with the gastroenterological manifestations of fat malabsorption, steatorrhea, and failure to thrive, and later in life, with progressive ophthalmopathy and neuropathy as a result of deficiency of the fat-soluble vitamins A and E. Heterozygous FHBL subjects are usually asymptomatic, but may develop fatty liver disease. In homozygous (compound heterozygous) FHBL, the clinical and biochemical features are indistinguishable from those of ABL and treatment recommendations are the same: dietary fat restriction to prevent steatorrhea, and long-term high-dose vitamin E and A supplementation to prevent or at least slow the progression of neuromuscular and retinal degenerative disease. Despite their low plasma vitamin E levels, individuals with heterozygous FHBL do not require vitamin E supplementation. There are conflicting reports on whether increased oxidative stress is seen in ABL; these differences may relate to the small size of patient groups as well as differences in patient age and dose of vitamin E supplementation, or the contribution from dietary sources of vitamin E. High density lipoproteins in ABL appear to be severely oxidized yet able to inhibit platelet aggregation by binding to scavenger receptor B1. We review the role of vitamin E and oxidative stress in ABL and FHBL.
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Australia. Electronic address: john.burnett@health.wa.gov.au.
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Australia.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
mesh_terms: D000012:Abetalipoproteinemia / Q000188:drug therapy / Q000503:physiopathology*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D018384:Oxidative Stress; D014810:Vitamin E / Q000097:blood / Q000627:therapeutic use*
chemical_list: D014810:Vitamin E
keywords: Abetalipoproteinemia; Familial hypobetalipoproteinemia; Hypocholesterolemia; Neuropathy; Oxidative stress; Vitamin E