Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program

Area of Science:

• Cardiovascular Genetics
• Public Health Screening
• Clinical Diagnostics

Background:

• Familial Hypercholesterolemia (FH) is a leading genetic cause of early coronary heart disease.
• Delayed diagnosis of FH hinders timely and effective treatment.
• Current national screening strategies for FH are insufficient for accurate diagnosis.

Purpose of the Study:

• To assess a centralized laboratory's capability in diagnosing FH.
• To establish a population screening health program in Huelva province.
• To improve early detection and management of FH.

Main Methods:

• Conducted active surveillance of hypercholesterolemia using blood tests with LDL cholesterol > 200 mg/dL.
• Utilized a reference laboratory and a dedicated Lipid Unit for patient assessment.
• Implemented family cascade screening following index case identification.

Main Results:

• Analyzed 37,440 lipid profile tests.
• Identified 846 individuals for assessment in the Lipid Unit.
• Diagnosed 192 probable/definitive FH cases (0.51%) and 654 possible cases (1.74%) in the screened population.

Conclusions:

• The point prevalence of FH among individuals tested was 1:195, exceeding general population estimates.
• Opportunistic index case detection via laboratory alerts and centralized screening is effective.
• This strategy offers an efficient model for national FH screening and diagnosis.