Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems

Area of Science:

• Cardiovascular Genetics
• Public Health
• Medical Informatics

Background:

• Familial hypercholesterolemia (FH) is a genetic disorder significantly increasing cardiovascular disease (CVD) risk, with FH patients experiencing 3-4 times higher coronary heart disease (CHD) incidence and ~10-year earlier CVD onset.
• Monogenic causes of FH include mutations in APOB, LDLR, and PCSK9 genes.
• An estimated 2.7 to 6.9 million individuals in China may have heterozygous FH (HeFH), and 2,205 to 4,609 may have homozygous FH (HoFH), yet specific diagnostic criteria for Chinese populations are lacking, leading to delayed diagnosis and treatment.

Purpose of the Study:

• To explore gene mutations, diagnosis, and treatment of FH patients in China.
• To highlight the need for Chinese FH registry systems and genetic databases, especially post-two-child policy implementation.
• To address challenges in cascade screening and long-term FH management within the Chinese context.

Main Methods:

• Literature review and analysis of existing data on FH in China.
• Exploration of genetic mutations (APOB, LDLR, PCSK9) associated with FH.
• Discussion of diagnostic and treatment strategies, emphasizing the need for culturally specific criteria.

Main Results:

• China lacks specific clinical diagnostic criteria for FH, resulting in late diagnoses, often after a cardiovascular event.
• The potential number of FH cases in China is substantial, necessitating targeted public health interventions.
• Current diagnostic and management approaches may not adequately address the needs of the Chinese FH population.

Conclusions:

• Establishing FH registry systems and genetic databases in China is a critical step for improving long-term patient prognosis.
• A systematic process flow from case identification to registry entry is recommended for clinical application.
• Collaborative efforts between clinical experts and the public are essential for effective FH management and treatment guidance.