ASSOCIATION BETWEEN GENETIC DYSLIPIDEMIA AND CORONARY ARTERY CALCIFICATION ON CT IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA

Abstract

Background: Familial hypercholesterolemia is an inherited lipid disorder characterized by lifelong elevation of low-density lipoprotein cholesterol and increased risk of premature coronary artery disease.

Objective: To evaluate the association between genetic dyslipidemia and coronary artery calcification on computed tomography in patients with familial hypercholesterolemia.

Methods: This cross-sectional analytical study was conducted at Radiology and Cardiology  Department of  MTI Mardan Medical Complex Mardan from January 2025 to August 2025, included 168 patients with diagnosed or suspected familial hypercholesterolemia. Demographic data, cardiovascular risk factors, lipid profile, family history, clinical features of familial hypercholesterolemia, genetic dyslipidemia status, and coronary artery calcium findings were recorded.

Results: The mean age of the patients was 42.86 ± 11.74 years, and 94 (56.0%) were male. Genetic dyslipidemia was confirmed in 97 patients (57.7%), most commonly due to LDLR mutation 68 (70.1%), followed by APOB 18 (18.6%) and PCSK9 8 (8.2%) mutations. Coronary artery calcification was present in 116 patients (69.0%), while 52 (31.0%) had CAC score of zero. Mild CAC was observed in 49 (29.2%), moderate CAC in 42 (25.0%), and severe CAC in 25 (14.9%) patients. CAC was significantly associated with older age, male sex, hypertension, smoking, family history of premature coronary artery disease, tendon xanthomas, higher LDL-C, elevated lipoprotein(a), and genetically confirmed familial hypercholesterolemia. CAC >0 was more frequent in genetically confirmed FH compared with clinical FH only, 76 (78.4%) versus 40 (56.3%) (p = 0.003).

Conclusion: Genetic dyslipidemia was significantly associated with both the presence and severity of coronary artery calcification in patients with familial hypercholesterolemia.