title: Postprandial hypertriglyceridaemia in patients with Tangier disease.
abstract: BACKGROUND
  Tangier disease (TD) is the phenotypic expression of rare familial syndromes with mutations in the ABCA1 transporter. TD results in extremely low high density lipoprotein (HDL) cholesterol and reduced low density lipoprotein cholesterol, with normal or mildly increased fasting triglyceride (TG) concentrations. Although there is a close relation between HDL cholesterol values and atherogenesis, the risk of coronary artery disease is variable in TD. Raised fasting or postprandial TG values frequently accompany low HDL cholesterol and can add to the risk of a vascular event.
  
  
  OBJECTIVE
  To investigate the postprandial TG response in TD.
  
  
  METHODS
  Five patients (three homozygotes (HTD) and two heterozygotes (hTD)) from one family were studied. One was defined by DNA analysis as homozygous for a new mutation (C2033A) resulting in truncation of the ABCA1 protein. Their TG concentrations were measured before and four, six, and eight hours after a standardised fat load and compared with a control group.
  
  
  RESULTS
  Two patients with HTD had high fasting TG concentrations. The third patient with HTD, the two with hTD, and the control group had TG concentrations within the reference range. The patients with HTD had increased postprandial peak TG values when compared with those with hTD and controls.
  
  
  CONCLUSIONS
  Patients with HTD, with or without fasting hypertriglyceridaemia, may have an increased TG response to a fatty meal. The small number of patients does not allow definitive conclusions to be made. However, postprandial hypertriglyceridaemia could be a reason why some patients with TD develop premature atherosclerosis.
authors.affiliation: Cardiology Department, Onassis Cardiac Surgery Centre, 17674 Athens, Greece. g_kolovou@yahoo.co.uk
authors.forename: G
authors.initials: G
authors.lastname: Kolovou
authors.forename: D
authors.initials: D
authors.lastname: Daskalova
authors.forename: K
authors.initials: K
authors.lastname: Anagnostopoulou
authors.forename: I
authors.initials: I
authors.lastname: Hoursalas
authors.forename: V
authors.initials: V
authors.lastname: Voudris
authors.forename: D P
authors.initials: DP
authors.lastname: Mikhailidis
authors.forename: D V
authors.initials: DV
authors.lastname: Cokkinos
mesh_terms: D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D015228:Hypertriglyceridemia / Q000209:etiology*; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D019518:Postprandial Period; D013631:Tangier Disease / Q000097:blood* / Q000235:genetics