Prevalence of Familial Hypercholesterolemia and Its Association with Cardiovascular Risk in a Cross-Sectional Adult...

Background/Objectives: Familial hypercholesterolemia (FH) is an inherited lipid disorder that markedly elevates lifetime risk of premature cardiovascular disease (CVD), yet remains under-recognized globally. We aimed to estimate the prevalence of phenotype-defined FH among adults in Almaty, Kazakhstan, describe lipid profiles and treatment patterns, and examine the association between FH status and prevalent CVD. Methods: We conducted a cross-sectional analysis of routinely collected clinical and laboratory data from adults (≥18 years) recorded between March 2023 and March 2024. FH status was classified using Dutch Lipid Clinic Network criteria (probable: 6-8 points; possible: 3-5). Outcomes included lipid measures, statin use, and CVD. Group comparisons used standard tests; multivariable logistic regression estimated adjusted odds ratios (AORs) for prevalent CVD, controlling for age, sex, smoking, body mass index (BMI), systolic blood pressure (SBP), and LDL-C. Results: Among 2468 participants (mean age 45.2 ± 14.3 years; 64.7% women), FH prevalence was 0.4% probable (n = 10) and 6.7% possible (n = 166). FH groups had substantially higher LDL-C and higher systolic blood pressure. Overall statin use was 6.7%; within FH, 13.3% (possible) and 10.0% (probable) used statins. Prevalent CVD affected 18.6% overall, rising to 48.2% (possible FH) and 60.0% (probable FH) (p < 0.001). After adjustment, FH remained independently associated with CVD (AOR 8.15, 95%CI 5.30-12.53 for possible; AOR 40.60, 95%CI 9.15-180.2 for probable vs. non-FH). Age and BMI were positively associated with CVD; LDL-C showed an inverse association consistent with treatment confounding. Conclusions: In this Kazakhstani adult cohort, phenotype-defined FH was present in 0.4% probable and 6.7% possible with a high burden of prevalent CVD and low statin use. These findings highlight substantial missed opportunities for early detection and aggressive lipid-lowering therapy, and support implementing FH identification, treatment intensification, and family-based cascade strategies in Kazakhstan.