Cascade screening for familial hypercholesterolemia should be organized at a national level

Area of Science:

• Cardiovascular Medicine
• Genetics
• Public Health

Background:

• Familial hypercholesterolemia (FH) significantly elevates the risk of premature cardiovascular disease.
• Effective lipid-lowering therapies exist, underscoring the importance of timely FH diagnosis.
• Current cascade screening within ordinary healthcare systems has shown limited success.

Purpose of the Study:

• To highlight the need for improved strategies in diagnosing familial hypercholesterolemia.
• To emphasize the importance of efficient cascade screening for FH detection.
• To advocate for organized national approaches to FH diagnosis.

Main Methods:

• Review of current cascade screening practices for familial hypercholesterolemia.
• Analysis of the components necessary for effective national screening programs.
• Discussion on the role of genetic identification and specialized centers.

Main Results:

• National-level organization and dedicated personnel, like genetic counselors, are essential for successful FH cascade screening.
• Establishing a national FH patient registry is a critical component of an organized program.
• Diagnosis based on identifying the specific genetic mutation is vital for effective screening.

Conclusions:

• National cascade screening programs for FH are highly effective in identifying affected individuals.
• Even moderately sized national programs can lead to the identification of a substantial number of FH patients.
• Organized, national-level cascade screening is recommended to improve FH diagnosis and subsequent cardiovascular disease risk reduction.