Inherited Dyslipoproteinemias of Various Etiologies

Aug 24, 2016 by in ENDOCRINOLOGY Comments Off on Inherited Dyslipoproteinemias of Various Etiologies

Inherited Dyslipoproteinemias of Various Etiologies Familial lipoprotein(a) hyperlipoproteinemia High levels of lipoprotein(a) (Lp(a)) aggregate or segregate in families and may be associated with atherosclerotic vascular disease. In Turkey, a country…

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Inherited Mixed Dyslipoproteinemias

Aug 24, 2016 by in ENDOCRINOLOGY Comments Off on Inherited Mixed Dyslipoproteinemias

Inherited Mixed Dyslipoproteinemias Familial combined hyperlipidemia The notion of familial combined hyperlipidemia (FCH, FCHL or multiple phenotype disease or multiple lipoprotein-type hyperlipidemia) evolved in the early 1970s from the work…

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Hereditary Hypertriglyceridemias

Aug 24, 2016 by in ENDOCRINOLOGY Comments Off on Hereditary Hypertriglyceridemias

Hereditary Hypertriglyceridemias Lipoprotein lipase deficiency (familial hyperchylomicronemia) Lipoprotein lipase (LPL) deficiency (OMIM No. 238600) is a rare autosomal recessive disorder, which was first reported as a separate entity in Europe…

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Hereditary Hypercholesterolemias

Aug 24, 2016 by in ENDOCRINOLOGY Comments Off on Hereditary Hypercholesterolemias

Hereditary Hypercholesterolemias Introduction The ‘familial hypercholesterolemia phenotype’ has clinical and laboratory features usually ascribed to the heterozygous form of familial hypercholesterolemia (FH) (Table 1.1) secondary to a mutation of the…

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