Predictors of cardiovascular disease in a familial hypercholesterolemia unit

Abstract

Abstract Funding Acknowledgements Type of funding sources: None. Introduction Screening and cascade screening for familial hypercholesterolemia (FH) is advised in patients with early coronary heart disease (ECHD) or high-risk dyslipidemia LDL-c >190 mg/dL without secondary cause. The diagnostic rates of FH by genetic testing are 5-9% in patients with ECHD and 2-5% in patients with high-risk dyslipidemia. Methods Observational retrospective study of a cohort of 615 patients over 18 years of age, included in an HF unit (177 index cases and 438 first-grade relatives). The population was divided into 201 (32.7%) patients with cardiovascular disease (CVD) (Group A), and 414 patients without CVD (Group B). Clinical characteristics, variables of the inclusion blood test in the HF unit and the lipid-lowering treatment implemented were compared. Results Group A patients were older, wiht a higher proportion of male, higher rates of hypertension and diabetes, higher body mass index (BMI), higher percentage of obese, and no difference in historical maximum LDL-c levels compared to Group B. Group A patients, as a result of CVD, receivedmore potent lipid-lowering treatment, had lower levels of LDL-c but without differences in meeting their LDL-c objective (45.7% vs 39%, p=0.19), presented a higher rate of small and dense LDL-c either measured by LDL-c/ApoB ratio <1.3 or Triglycerides/HDL-c >2, and lower HDL-c values with a higher percentage of values minor than 40 mg/dL in men and less than 45 mg/dL in women (HDL-c <40-45). Group A had higher lipoprotein (a) values and higher lipoprotein (a) >180 mg/dL (equivalent to FH), a higher proportion of chronic kidney desease and increased uric acid (table 1). Conclusions In a population of patients with suspected FH, the presence of CV risk factors (male sex, older age, high blood pressure, diabetes, obesity, chronic kidney desease), and atherogenic blood test (HDL<40-45, increased lipoprotein (a), increased uric acid, small and dense LDL-c) were associated with CVD. The detection of these in this patient population of patients should lead us to act early and aggressively to prevent the development of CV events.