Genetic diseases of lipid metabolism Focus familial hypercholesterolemia

被引：2

作者：

Maerz, Winfried ^{[1
]}

Beil, Frank-Ulrich ^{[2
]}

Dieplinger, Hans ^{[3
,4
]}

机构：

[1] Med Univ Graz, Klin Inst Med & Chem Labordiagnost, Graz, Austria

[2] Humanmed Heidelberg & Dusseldorf, Dusseldorf, Germany

[3] Med Univ Graz, Forschungstatigkeiten Inst Med Biochemi, Graz, Austria

[4] Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA

来源：

DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT | 2022年 / 147卷 / 10期

关键词：

genetic disorders of lipoprotein metabolism; familial hypercholesterolemia; familial combined hypolipoproteinemia; polygenic hypercholesterolemia; genetic diagnosis; atherosclerosis; CHOLESTEROL; RISK;

D O I：

10.1055/a-1516-2541

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：E50 / E61

页数：12

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