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. 2003 Dec;56(12):937-41.
doi: 10.1136/jcp.56.12.937.

Postprandial hypertriglyceridaemia in patients with Tangier disease

G Kolovou  1 , D Daskalova, K Anagnostopoulou, I Hoursalas, V Voudris, D P Mikhailidis, D V Cokkinos
Affiliations

Postprandial hypertriglyceridaemia in patients with Tangier disease

G Kolovou et al. J Clin Pathol. 2003 Dec.

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.

Aims: To investigate the postprandial TG response in TD.

Patients and 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.

Conclusion: 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.

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Figures

Figure 1
Figure 1
Pedigree of the family with Tangier disease. The arrow indicates the proband (individual V10). Individuals IV4 and IV5, the parents of the proband V10, are obligate heterozygotes. The numbers above symbols indicate age. Roman numerals indicate the number of the generation. Solid symbols indicate homozygotes and half filled symbols indicate obligate heterozygotes.
Figure 2
Figure 2
Schematic representation of triglyceride (TG) concentrations for cases and controls in relation to time.
See this image and copyright information in PMC

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