Genetische Erkrankungen des Lipidstoffwechsels

An angeborene Störungen des Fettstoffwechsels ist zu denken, wenn bei jungen Individuen die Konzentrationen des LDL-C über 190 mg/dl (4,9 mmol/l) und/oder der Triglyzeride über 200 mg/dl (2,3 mmol/l) liegen, eine sekundäre Hyperlipoproteinämie (HLP) ausgeschlossen ist oder sich bei Angehörigen ebenfalls erhöhte Lipidkonzentrationen oder frühzeitige Herzinfarkte finden. Für eine primäre HLP spricht auch das Auftreten von Xanthelasmen, Arcus lipoides, Xanthomen und abdominellen Beschwerden. Diese Übersicht fasst den Stand der Kenntnisse zur Ätiologie und Pathogenese dieser primären HLP zusammen.

Abstract

Congenital disorders of lipid metabolism are characterised by LDL-C concentrations > 190 mg/dl (4.9 mM) and/or triglycerides > 200 mg/dl (2.3 mM) in young individuals after having excluded a secondary hyperlipoproteinemia. Further characteristics of this primary hyperlipoproteinemia are elevated lipid values or premature myocardial infarctions within families or xantelasms, arcus lipoides, xanthomas and abdominal pain. This overview summarises our current knowledge of etiology and pathogenesis of primary hyperlipoproteinemia.

Schlüsselwörter

genetisch verursachte Störungen des Lipidstoffwechsels - familiäre Hypercholesterinämie - familiäre kombinierte Hyperlipoproteinämie - polygene Hypercholesterinämie - genetische Diagnostik - Atherosklerose

Key words

genetic disorders of lipoprotein metabolism - familial hypercholesterolemia - familial combined hypolipoproteinemia - polygenic hypercholesterolemia - genetic diagnosis - atherosclerosis

Publication History

Article published online:
11 May 2022

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