• Dtsch. Med. Wochenschr. · Apr 2022

    Review

    [Genetic diseases of lipid metabolism - Focus familial hypercholesterolemia].

    • Winfried März, Frank-Ulrich Beil, and Hans Dieplinger.
    • Dtsch. Med. Wochenschr. 2022 Apr 1; 147 (10): e50-e61.

    AbstractCongenital 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.Thieme. All rights reserved.

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