Challenges in pediatric familial hypercholesterolemia management: insights from a survey in Shizuoka, Japan

Aim: This study aimed to assess the knowledge, awareness, and clinical practices related to familial hypercholesterolemia (FH) among pediatricians, including certified specialists, in Shizuoka Prefecture, Japan. The objective was to identify key challenges in FH management and propose strategies for improvement. Methods: A cross-sectional, anonymous survey was conducted from August 2023 to March 2024 among members of the Shizuoka Regional Pediatric Society. The survey included questions about FH screening, diagnostic practices, awareness of guidelines, and treatment strategies. Data were collected via Google Forms and analyzed to evaluate knowledge gaps, adherence to guidelines, and implementation of FH management strategies. Results: Among 47 respondents, 72.3% supported the implementation of school-age FH screening programs; however, only 8.5% reported conducting such programs in their regions. Awareness of the 2022 Pediatric FH Management Guidelines was limited to 34.8%, and 30.2% of respondents reported adhering to these guidelines in clinical practice. The prevalence of FH in Japan was correctly identified by 45.7% of respondents. Additionally, only 21.3% were aware that FH genetic testing has been covered by health insurance since 2022, highlighting limited awareness of recent advancements in FH management. Conclusion: The findings underscore critical gaps in pediatric FH management, including insufficient awareness and limited implementation of screening and treatment strategies. Addressing these challenges requires enhanced education, systematic policies, and collaboration between healthcare providers, policymakers, and patient advocacy groups. Establishing centralized care networks and integrating FH screening into routine health checks could significantly improve early detection and management, reducing the future burden of cardiovascular disease.