Update on primary hypobetalipoproteinemia.
"Primary hypobetalipoproteinemia" refers to an eclectic group of inherited lipoprotein disorders characterized by low concentrations of or absence of low-density lipoprotein cholesterol and apolipoprotein B in plasma. Abetalipoproteinemia and homozygous familial hypobetalipoproteinemia, although caused by mutations in different genes, are clinically indistinguishable. A framework for the clinical follow-up and management of these two disorders has been proposed recently, focusing on monitoring of growth in children and preventing complications by providing specialized dietary advice and fat-soluble vitamin therapeutic regimens. Other recent publications on familial combined hypolipidemia suggest that although a reduction of angiopoietin-like 3 activity may improve insulin sensitivity, complete deficiency also reduces serum cholesterol efflux capacity and increases the risk of early vascular atherosclerotic changes, despite low low-density lipoprotein cholesterol levels. Specialist laboratories offer exon-by-exon sequence analysis for the molecular diagnosis of primary hypobetalipoproteinemia. In the future, massively parallel sequencing of panels of genes involved in dyslipidemia may play a greater role in the diagnosis of these conditions.
Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Wellington Street, GPO Box X2213, Perth, WA, 6847, Australia.
Amanda J
AJ
Hooper
John R
JR
Burnett
D000012:Abetalipoproteinemia / Q000150:complications / Q000235:genetics / Q000628:therapy*; D001361:Avitaminosis / Q000209:etiology / Q000517:prevention & control*; D018752:Diet, Fat-Restricted; D006801:Humans; D052476:Hypobetalipoproteinemia, Familial, Apolipoprotein B / Q000150:complications / Q000235:genetics / Q000628:therapy*; D006995:Hypobetalipoproteinemias / Q000150:complications / Q000235:genetics / Q000628:therapy; D014801:Vitamin A / Q000627:therapeutic use; D014810:Vitamin E / Q000627:therapeutic use; D014815:Vitamins / Q000627:therapeutic use*
D014815:Vitamins; D014801:Vitamin A; D014810:Vitamin E