Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

Area of Science:

• Cardiovascular Medicine
• Genetics
• Public Health

Background:

• Familial hypercholesterolemia (FH) is a genetic disorder leading to high cholesterol levels.
• Current diagnostic tools include lipid measurements and genetic testing, but FH is often diagnosed late due to a lack of early screening programs.
• Late diagnosis increases the risk of premature coronary artery disease.

Purpose of the Study:

• To highlight the importance of early screening for familial hypercholesterolemia.
• To emphasize the need for global implementation of FH identification programs.
• To discuss the benefits of early FH diagnosis and LDL-C lowering.

Main Methods:

• Review of current diagnostic tools for FH (lipid profile, genetic testing).
• Analysis of the impact of early diagnosis and LDL-C reduction on cardiovascular risk.
• Examination of existing best practices in non-communicable disease prevention, including pediatric FH screening.

Main Results:

• Pediatric FH screening is recognized as a best practice in non-communicable disease prevention.
• Early diagnosis and lifelong LDL-C lowering significantly reduce the risk of coronary artery disease.
• Despite available diagnostic tools, a global lack of early screening programs leads to late FH diagnosis.

Conclusions:

• Early detection of FH through comprehensive screening must become a global healthcare priority.
• Governmental programs are essential for standardizing FH diagnosis and increasing patient identification.
• Implementing effective FH screening programs offers substantial health and socioeconomic benefits.