Postprandial hypertriglyceridaemia in patients with Tangier disease
| Autor: | D. P. Mikhailidis, GD Kolovou, D V Cokkinos, D Daskalova, K.K. Anagnostopoulou, V. Voudris, I Hoursalas |
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| Rok vydání: | 2003 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology and Forensic Medicine chemistry.chemical_compound High-density lipoprotein Tangier disease Internal medicine medicine Humans Hypoalphalipoproteinemia Tangier Disease Hypertriglyceridemia Triglyceride biology Cholesterol business.industry Homozygote nutritional and metabolic diseases Original Articles General Medicine Postprandial Period medicine.disease Pedigree Endocrinology Postprandial chemistry ABCA1 Mutation biology.protein Female lipids (amino acids peptides and proteins) business |
| Zdroj: | Journal of Clinical Pathology. 56:937-941 |
| ISSN: | 0021-9746 |
| DOI: | 10.1136/jcp.56.12.937 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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