Familial Hypercholesterolemia::New Horizons for Diagnosis and Effective Management


Familial hypercholesterolemia (FH) is a common genetic cause of premature cardiovascular disease (CVD). The reported prevalence rates for both heterozygous FH (HeFH) and homozygous FH (HoFH) vary significantly, and this can be attributed, at least in part, to the variable diagnostic criteria used across different populations. Due to lack of consistent data, new global registries and unified guidelines are being formed, which are expected to advance current knowledge and improve the care of FH patients. This review presents a comprehensive overview of the pathophysiology, epidemiology, manifestations, and pharmacological treatment of FH, whilst summarizing the up-to-date relevant recommendations and guidelines. Ongoing research in FH seems promising and novel therapies are expected to be introduced in clinical practice in order to compliment or even substitute current treatment options, aiming for better lipid-lowering effects, fewer side effects, and improved clinical outcomes.

Publication DOI: https://doi.org/10.3389/fphar.2018.00707
Divisions: College of Health & Life Sciences > Aston Medical School
Additional Information: © 2018 Mytilinaiou, Kyrou, Khan, Grammatopoulos and Randeva. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Publication ISSN: 1663-9812
Full Text Link:
Related URLs: https://www.fro ... 2018.00707/full (Publisher URL)
PURE Output Type: Review article
Published Date: 2018-07-12
Accepted Date: 2018-06-12
Authors: Mytilinaiou, Maria
Kyrou, Ioannis (ORCID Profile 0000-0002-6997-3439)
Khan, Mike
Grammatopoulos, Dimitris K.
Randeva, Harpal S.



Version: Published Version

License: Creative Commons Attribution

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