Familial Hypercholesterolemia Screening: From Pediatric Detection to Life-long Management

Abstract

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth and an increased lifetime risk of atherosclerotic cardiovascular disease (ASCVD). Early identification and treatment are therefore essential to reduce cumulative LDL-C exposure. Several approaches to FH screening have been proposed, including cascade, reverse cascade, opportunistic, selective, and universal screening, each with distinct advantages, limitations, and implementation requirements. In particular, pediatric screening provides an opportunity for early diagnosis and treatment while also facilitating the identification of affected family members. Screening programs have been implemented differently across countries and regions according to healthcare systems and existing screening infrastructure, with regional universal screening programs also emerging in Japan.

However, the value of FH screening extends beyond case detection. Individuals identified through screening should be linked to a definitive diagnosis, risk assessment, treatment, family-based management, and life-long follow-up. This review summarizes current FH screening strategies and their international implementation, with particular emphasis on pediatric detection, and discusses subsequent clinical management and future approaches to sustainable life-long care. Integrating effective screening with coordinated healthcare delivery systems is essential to translate early detection into long-term ASCVD prevention.