Abstract
Among the inherited disorders of lipoprotein metabolism, familial hypertriglyceridemia (FHT) is one of the least well understood. In FHT all affected relatives have elevated serum triglyceride levels only, while in familial combined hyperlipidemia, serum triglyceride, cholesterol or both may be elevated in affected family members (1). Genetic studies have suggested an autosomal dominant trait (1), but up to now no clinical or biochemical genetic marker are known which can distinguish patients with FHT from individuals who suffer from other forms of hypertriglyceridemia. The diagnosis of familial hypertriglyceridemia can only be made with certainty if the patient has a sufficiently large family to allow family studies. The gene seems to have a low penetrance. Thus, full expression of the gene appears to occur only after the age of 25 to 30. Serum triglyceride levels can therefore not be used in children, adolescents and young adults for genetic screening.
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© 1983 Springer-Verlag Berlin Heidelberg
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Henze, D.K., Zöllner, N. (1983). Familial Hypertriglyceridemia: Incidence, Genetics and Possible Defect in Cellular Metabolism. In: Schettler, F.G., Gotto, A.M., Middelhoff, G., Habenicht, A.J.R., Jurutka, K.R. (eds) Atherosclerosis VI. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-81817-2_18
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DOI: https://doi.org/10.1007/978-3-642-81817-2_18
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