Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management

Maria Mytilinaiou, Ioannis Kyrou, Mike Khan, Dimitris K. Grammatopoulos, Harpal S. Randeva

Research output: Contribution to journalReview articlepeer-review


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.
Original languageEnglish
Article number707
JournalFrontiers in Pharmacology
Publication statusPublished - 12 Jul 2018

Bibliographical note

© 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.


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