Abstract
Essential familial hypercholesterolemia (EFH) is an hereditary disorder of lipid metabolism which is characterized chemically by elevation of plasma cholesterol and phospholipids due to an increased concentration of beta-lipoproteins. The cholesterol to phospholipid ratio is greater than one. Typical clinical features are skin, fascial and tendon xanthomas, the incidence of which seems to depend on the plasma lipid level and increases with age. Xanthelasmas of the eyelids and arcus lipoides corneae are more frequent than in the general population. The prevalence of signs and symptoms of premature atherosclerosis is high. Since hypercholesterolemia in an individual is non-specific unless it is of very marked degree, the diagnosis of EFH frequently depends on the demonstration of one or more of these symptoms in several members of a kindred. Only rarely does a patient show all the symptoms of EFH; monosymptomatic (cholesterol elevation only) and heterosymptomatic forms are frequent.
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Schettler, G., Kahlke, W., Schlierf, G. (1967). Essential Hypercholesterolemia. In: Schettler, G. (eds) Lipids and Lipidoses. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-87367-6_16
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