Familial Hypercholesterolemia (FH) Registry Worldwide: A Systematic Review

Abstract

Familial hypercholesterolemia (FH) is the most common genetic disease which accelerates the development of premature coronary artery disease (CAD) in young adults if remains untreated. The overall prevalence of FH is currently unknown and is usually underdiagnosed and undertreated worldwide. FH registry in different geographical area is a mission that helps early diagnosis of FH patients in the general population. PubMed, ISI Web of Science, Scopus, and Google Scholar were searched systematically for studies and reports on the FH registry using related keywords. Finally, 27 studies were included in this review. Most of the studies used the CASCADE screening method based on 1 or more than 1 of the 3 well-established FH criteria namely, the Dutch Lipid Clinic Network, Simon Broome Register, or Make Early Diagnosis to Prevent Early Death criteria. Except for a small number of studies that the genetic and molecular methods were used, in other studies only clinical diagnosis was applied. All these studies claimed that the FH registry causes the identification of many new cases as a result of used CASCADE screening and referral to lipid clinics. They concluded that the FH registry increases general and also physician awareness on FH prevalence and its related complications which in the long-term will improve FH management. This indicates that in other parts of the world, the FH registry should be established as well so that more accurate statistics on the prevalence of this disease can be found worldwide which would help in diagnosis and prevention.