Background: Familial Hypercholesterolaemia (FH) is the most common metabolic genetic disorder,
with around 13 million people worldwide having the disease. However, FH is globally underdiagnosed and undertreated,
while the vast majority of those treated do not achieve treatment goals.
Objective: This review aims to clarify how to identify patients with FH.
Methods: We performed a comprehensive search of the literature to identify available data.
Results: Patients with FH are at high risk for cardiovascular events and death at an early age. Therefore, prompt
detection of individuals with FH is of pivotal importance in order to implement appropriate preventive measures
at a young age. Patient registries are a powerful tool for recording and monitoring a disease and encouraging
clinical practices, subsequently improving outcomes and reducing healthcare costs. National FH registries are
successfully applied in several countries (e.g. Spain, Denmark, UK, USA and the Netherlands). Importantly, in
the last few years, the European Atherosclerosis Society (EAS) launched a global FH network aiming to collect
data from specialized FH centres from different countries and establish a worldwide, standardised registry of
patients with FH.
Conclusion: It appears that the establishment and proper function of such registries will improve FH diagnosis,
as well as preventive measures and management of FH patients.