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.
Subject(s)
Hypertriglyceridemia/etiology , Tangier Disease/blood , Adult , Female , Homozygote , Humans , Male , Mutation/genetics , Pedigree , Postprandial Period , Tangier Disease/geneticsABSTRACT
84 persons were examined: 61 patients with rheumatic mitral valve stenosis (21 men and 40 women), mean age 39.38 +/- 11.2 years and 23 healthy controls (14 men and 9 women), mean age 25.62 +/- 3.8 years. The morphologic and quantitative characteristics of the diastolic part of the pulse Doppler echocardiographic signal of mitral circulation analyzed by histogram of the time intervals show highly significant statistical differences between the patients with mitral valve stenosis and the healthy controls (100% specificity and sensitivity). The differentiation of mild and moderate from severe mitral stenosis by pulse Doppler echocardiography of mitral valve circulation, analyzed by histogram of the time intervals, is achieved with satisfactory precision by determination of the speed of the circulation fall in the early 1/3 of the diastole. The pulse Doppler echocardiograph performed by a transducer with 2.5 mHz frequency and the simultaneous M-echocardiography, the Doppler effect being analyzed by histogram of the time intervals, do not allow the precise determination of the degree of mitral valve stenosis.
