Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

• Published in: Current atherosclerosis reports Vol. 25; no. 4; pp. 127 - 132
• Main Authors: Medeiros, A. M., Bourbon, M.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-04-2023
• Subjects: Angiology; Cardiology; Child; Coronary Artery Disease - genetics; Genetic Testing; Humans; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - genetics; Lipids; Medicine; Medicine & Public Health; Risk Factors; Topical Collection on Children/Adolescents/Young Adults and Atherosclerosis; FH screening; FH; Familial hypercholesterolemia; LDLR; Dyslipidemia; High cholesterol
• ISSN: 1523-3804; 1534-6242
• DOI: 10.1007/s11883-023-01091-5

Purpose of Review
Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH is diagnosed late, showing lack of early screening programs worldwide.
Recent Findings
Pediatric screening of FH was recently recognized by the European Commission Public Health Best Practice Portal as one on the best practices in non-communicable disease prevention. The early diagnosis of FH and the lowering of LDL-C values over lifespan can reduce the risk of coronary artery disease and offer health and socioeconomic gains.
Summary
Current knowledge about FH shows that early detection through appropriate screening needs to become a priority in healthcare systems worldwide. Governmental programs for FH identification should be implemented to unify the diagnosis and increase patient identification.