title: Hyperlipoproteinemia type 3: the forgotten phenotype.
abstract: Hyperlipoproteinemia type 3 (HLP3) is caused by impaired removal of triglyceride-rich lipoproteins (TGRL) leading to accumulation of TGRL remnants with abnormal composition. High levels of these remnants, called β-VLDL, promote lipid deposition in tuberous xanthomas, atherosclerosis, premature coronary artery disease, and early myocardial infarction. Recent genetic and molecular studies suggest more genes than previously appreciated may contribute to the expression of HLP3, both through impaired hepatic TGRL processing or removal and increased TGRL production. HLP3 is often highly amenable to appropriate treatment. Nevertheless, most HLP3 probably goes undiagnosed, in part because of lack of awareness of the relatively high prevalence (about 0.2% in women and 0.4-0.5% in men older than 20 years) and largely because of infrequent use of definitive diagnostic methods.
authors: Cardiovascular Genetics, Department of Internal Medicine, University of Utah, 420 Chipeta Way, Room 1160, Salt Lake City, UT, 84108, USA, paul.hopkins@utah.edu.
authors: Paul N
authors: PN
authors: Hopkins
authors: Eliot A
authors: EA
authors: Brinton
authors: M Nazeem
authors: MN
authors: Nanjee
mesh_terms: D000818:Animals; D002318:Cardiovascular Diseases / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D008074:Lipoproteins / Q000378:metabolism*; D010641:Phenotype; D014280:Triglycerides / Q000378:metabolism*
chemical_list: D008074:Lipoproteins; D014280:Triglycerides; C030087:lipoprotein triglyceride