Physicians' Academy for Cardiovascular Education

Monogenic FH and clinically defined FH remain largely undertreated

Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland

Literature - Björnsson E, Thorgeirsson G, Helgadóttir A et al. - Arterioscler Thromb Vasc Biol. 2021 Oct;41(10):2616-2628. doi: 10.1161/ATVBAHA.120.315904

Introduction and methods


Familial hypercholesterolemia (FH) is most often diagnosed based on clinical presentation, without conformation of a causative mutation by genetic testing [1].

Aim of the study

This study investigated the prevalence and impact of monogenic FH and clinically defined FH in a large proportion of the Icelandic population.

Study design

The prevalence of monogenic FH was examined in 166281 Icelandic participants [2], which represents a large proportion of the total Icelandic population (total inhabitants of Iceland on January 1, 2020: 364164). The prevalence of clinical FH was estimated in a subsample of 79058 living participants between 20 and 80 years old with at least one LDL-c measurement. Clinical FH was defined as probable or definite FH based on a modified version of the Dutch Lipid Clinic Network (DLCN) criteria which excluded physical examination findings and genetic information. Risk for CAD, treatment with lipid-lowering agents and achievement of LDL-c targets were compared between participants with monogenic and clinically defined FH.

Main results


The prevalence of monogenic FH in this large Icelandic population was 1 in 836 (0.12%). This is lower than the estimated prevalence in populations in other countries [3-7]. Only a small proportion of individuals with clinically defined FH had monogenic FH. Both patients with clinically defined FH and monogenic FH are undertreated and only very few achieved LDL-c targets recommended by recent ESC/EAS guidelines.


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Find this article online at Arterioscler Thromb Vasc Biol.

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