[Cutaneous xanthoma, xanthelasma, and hypobetalipoproteinemia. An uncommon association of undetermined pathogenesis].
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Biomedical subjects
Publications and source records attributed to F Dairou.
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Together with the rare dysbetalipoproteinaemia (type III) and with combined beta- and pre-betalipoproteinaemia (type IIb), slow pre-betalipoproteinaemia (type IVb) belongs to the group of mixed hyperlipidaemias, where both blood cholesterol and triglycerides are raised. From a study of 30 patients, 10 of whom benefited from ultracentrifugal separation of lipoproteins, the authors define type IVb hyperlipidaemia, characterized by an equal increase in triglycerides and cholesterol and by the fact that the cholesterol overload is almost entirely due to slow pre-betalipoproteins. This particular type undoubtedly plays a part in the development of atherosclerosis.
Total blood cholesterol, plasma triglycerides, and lipoprotein electrophoresis have been studied 8 and 12 hours after a standard meal. In controls and in familial hypercholesterolemia, plasma triglycerides were normal at 8th and 12th hour of fasting. In mixed hyperlipidemia, as in endogenous hypertriglyceridemia, plasma triglycerides were abnormally high at the 8th hour of fasting. Difference of 8th-12th hour triglycerides levels was greater in these two groups than in controls and in familial hypercholesterolemia. These results suggest than the 8th jour value will rectify a mistaken classification or detect a latent hyperlipidemia.
An 87-year-old women with a type III hyperlipoproteinemia previously known as good clofibrate responder, was treated with oral doses of 50 and then 25 microgram/day of ethinyl estradiol for 6 weeks. Lipid levels were almost normal after one week of therapy, but increased again as soon as treatment was discontinued. This estrogenic effect appears to result from an improvement in catabolism of beta VLDL, as demonstrated by the absence of clinical signs and electrophoresis criteria during treatment. On the contrary, however, the anomalies in apoprotein E are not influenced by treatment.
Twelve subjects with primary type IIA hyperlipoproteinaemia were treated with cholestyramine under metabolic ward conditions in order to study the timing of effects of different serum lipoprotein classes. After 1 day's treatment changes occurred in all 3 classes, i.e., very low (VLDL), low (LDL) and high (HDL) density lipoprotein classes. VLDL increased abruptly and remained constant during treatment. The ratio of cholesterol/triglycerides decreased suggesting the formation of larger particles. LDL cholesterol decreased continuously suggesting a different mechanism behind this effect than that on VLDL. LDL triglyceride remained constant indicating a relative increase of LDL1. HDL cholesterol decreased while HDL triglycerides increased. All changes made the lipoprotein pattern more "type IV-like". The findings were in agreement with an increased formation of VLDL and an increased flux of lipoprotein through the cascade VLDL-IDL-LDL1-LDL2.
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Prenatal diagnosis of homozygous hypercholesterolemia was achieved at the 24th week of gestation by analysis of lipid values in a fetal blood sample obtained by a needle guided by ultrasound. These abnormal values were compared to values in blood obtained from normal fetuses at the same stage of gestation. After abortion, the diagnosis was confirmed by measuring LDL receptor activity on fibroblast cultures from a skin biopsy. The main advantages of this procedure over measuring LDL receptor activity on cultured amniotic cells are its simplicity and speed.
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There is now an enormous amount of literature on the relationship between blood lipids and coronary artery disease. It is clear that the treatment by modification of the diet and hypolipidaemic drugs is associated with a decrease of the coronary events. However there is no cure for any of the primary dyslipidemias and relative treatment involves a life-long commitment by the patient. In addition the efficiency of the treatment is dramatically different in patients at very high risk (secondary prevention, combination of several risk factors) and in those at moderate risk. Furthermore, patient's compliance is usually low. Therefore management of the hyperlipidaemic patients requires a rigorous approach to evaluate the global risk and consequently to adapt the treatment at an individual level. We describe here our outpatient clinic in which about 6000 hyperlipidaemic patients have been referred. We indicate the strategy that we used for taking care the patients including 1) the education of the subjects 2) the detection of secondary hyperlipidaemia 3) the evaluation of the global risk including non-invasive evaluation of the atherosclerosis and the results of such approach (for example, we found a much higher percentage of positive exercise ECG in patients with carotid atherosclerosis in our ultrasonographic examinations.