Universität zu Köln

Gouni-Berthold, Ioanna and Berthold, Heiner K. (2014). Familial Hypercholesterolemia: Etiology, Diagnosis and New Treatment Options. Curr. Pharm. Design, 20 (40). S. 6220 - 6230. SHARJAH: BENTHAM SCIENCE PUBL LTD. ISSN 1873-4286

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Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder that presents with robust increases in low-density lipoprotein cholesterol (LDL-C) and can lead to premature cardiovascular disease. There are heterozygous and homozygous forms. The diagnosis is usually made based on blood cholesterol levels, clinical signs and family history. Genetic testing can be used to confirm the diagnosis. Effective lowering of LDL-C in FH can prevent cardiovascular morbidity and mortality, however, the disease remains greatly under-diagnosed. The mainstay of pharmacologic therapy in FH patients is high-dose statins, which are often combined with other lipid-lowering agents. The homozygous form is mainly treated with lipid apheresis. Guideline-recommended target levels of LDL-C are often not reached, making new treatment options desirable. Four classes of newer lipid-lowering drugs offer promising advances in treating FH, namely the apolipoprotein-B synthesis inhibitors (mipomersen), the microsomal transfer protein inhibitors (lomitapide), the cholesterol ester transfer protein inhibitors (anacetrapib, evacetrapib) and the proprotein convertase subtilisin/kexin type 9 inhibitors (evolocumab, alirocumab). In this review, the available evidence regarding the use of these drugs in patients with FH is discussed, with particular focus on their efficacy and safety.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Gouni-Berthold, Ioanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Berthold, Heiner K. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-449412
DOI:	10.2174/1381612820666140620125213
Journal or Publication Title:	Curr. Pharm. Design
Volume:	20
Number:	40
Page Range:	S. 6220 - 6230
Date:	2014
Publisher:	BENTHAM SCIENCE PUBL LTD
Place of Publication:	SHARJAH
ISSN:	1873-4286
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DENSITY-LIPOPROTEIN-RECEPTOR; AUTOSOMAL-DOMINANT HYPERCHOLESTEROLEMIA; ASSOCIATION EXPERT PANEL; TRIGLYCERIDE TRANSFER PROTEIN; PATIENTS CLINICAL GUIDANCE; APOE P.LEU167DEL MUTATION; CORONARY-HEART-DISEASE; B SYNTHESIS INHIBITION; ESTER TRANSFER PROTEIN; APOLIPOPROTEIN-B Multiple languages Pharmacology & Pharmacy Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/44941