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[Inborn errors of high-density lipoprotein metabolism].
Internist (Berl) 2019; 60(12):1311-1318I

Abstract

Both low and very high levels of high-density lipoprotein cholesterol (HDL-C) increase the risk of atherosclerotic cardiovascular disease (ASCVD) and shorten life expectancy. Low and high levels of HDL‑C are often caused by underlying diseases, lifestyle or medication, which should primarily be excluded. Much less frequently, monogenic diseases due to mutations in the APOA1, ABCA1 and LCAT genes are the cause of very low or unmeasurable HDL‑C levels or in the CETP, LIPC and SCARB1 genes for very high HDL‑C values. Genetic and detailed biochemical diagnostics should be considered, especially in cases of absolute HDL deficiency, early onset ASCVD or the presence of clinical symptoms or laboratory values characteristic for deficiencies of apolipoprotein A‑I (ApoA-I), lecithin cholesterol acyltransferase (LCAT) or Tangier disease. These included corneal opacities, xanthomas, large tonsils, hepatomegaly, peripheral neuropathy, proteinuria, anemia or thrombocytopenia. Sequencing of the APOA1 gene should also be considered in familial amyloidosis. There is no specific treatment for monogenic HDL diseases. Cholesterol and blood pressure lowering are indicated for the prevention of cardiovascular and renal complications.

Authors+Show Affiliations

Institut für Klinische Chemie, Universitätsspital Zürich und Universität Zürich, Rämistrasse 100, 8091, Zürich, Schweiz. arnold.voneckardstein@usz.ch.

Pub Type(s)

English Abstract
Journal Article
Review

Language

ger

PubMed ID

31686116

Citation

von Eckardstein, Arnold. "[Inborn Errors of High-density Lipoprotein Metabolism]." Der Internist, vol. 60, no. 12, 2019, pp. 1311-1318.
von Eckardstein A. [Inborn errors of high-density lipoprotein metabolism]. Internist (Berl). 2019;60(12):1311-1318.
von Eckardstein, A. (2019). [Inborn errors of high-density lipoprotein metabolism]. Der Internist, 60(12), pp. 1311-1318. doi:10.1007/s00108-019-00700-3.
von Eckardstein A. [Inborn Errors of High-density Lipoprotein Metabolism]. Internist (Berl). 2019;60(12):1311-1318. PubMed PMID: 31686116.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Inborn errors of high-density lipoprotein metabolism]. A1 - von Eckardstein,Arnold, PY - 2019/11/7/pubmed PY - 2019/11/7/medline PY - 2019/11/6/entrez KW - Amyloidosis KW - Atherosclerosis KW - Corneal opacity KW - Nephropathy KW - Peripheral nervous system diseases SP - 1311 EP - 1318 JF - Der Internist JO - Internist (Berl) VL - 60 IS - 12 N2 - Both low and very high levels of high-density lipoprotein cholesterol (HDL-C) increase the risk of atherosclerotic cardiovascular disease (ASCVD) and shorten life expectancy. Low and high levels of HDL‑C are often caused by underlying diseases, lifestyle or medication, which should primarily be excluded. Much less frequently, monogenic diseases due to mutations in the APOA1, ABCA1 and LCAT genes are the cause of very low or unmeasurable HDL‑C levels or in the CETP, LIPC and SCARB1 genes for very high HDL‑C values. Genetic and detailed biochemical diagnostics should be considered, especially in cases of absolute HDL deficiency, early onset ASCVD or the presence of clinical symptoms or laboratory values characteristic for deficiencies of apolipoprotein A‑I (ApoA-I), lecithin cholesterol acyltransferase (LCAT) or Tangier disease. These included corneal opacities, xanthomas, large tonsils, hepatomegaly, peripheral neuropathy, proteinuria, anemia or thrombocytopenia. Sequencing of the APOA1 gene should also be considered in familial amyloidosis. There is no specific treatment for monogenic HDL diseases. Cholesterol and blood pressure lowering are indicated for the prevention of cardiovascular and renal complications. SN - 1432-1289 UR - https://www.unboundmedicine.com/medline/citation/31686116/[Inborn_errors_of_high-density_lipoprotein_metabolism] L2 - https://dx.doi.org/10.1007/s00108-019-00700-3 DB - PRIME DP - Unbound Medicine ER -