Genotyping of patients with severe dyslipidemia in a screening program for familial hypercholesterolemia. Studio Gioconda

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Abstract Funding Acknowledgements Type of funding sources: None. Introduction Familial hypercholesterolemia (FH) is one of the diseases of genetic origin that produces early cardiovascular disease (CVD), because the levels of low-density lipoproteins (LDL) are increased from an early age. In addition, when there are genetic variants in certain genes, the cardiovascular prognosis worsens. The objective of our work, was to evaluate those conditions that influence the genotyping of severe dyslipidemia in the context of a FH detection program. Material and methods We prospectively included all patients in the HF screening program at our center from February 1 to September 30, 2022. It was performed from Clinical Analysis, with an alarm system to detect severe dyslipidemia in patients over 18 years of age (LDL >190 mg/dl) in coordination with the Cardiology and Genetics Cardiovascular Prevention Unit, to select cases suitable for genetic study (Lipid Score of the Dutch Guidelines ³6 points). Results n = 353. Mean age 52.2 years. 51.6% women. 30% were hypertensive, 6% diabetic, 36% obese and 24% smokers. 33% had a family history (FaH) of CVD, 60% FaH of severe dyslipidemia and 10% FaH<18 years-LDLhigh. 2.6% had had a previous coronary event. Only 13% were on lipid-lowering treatment. The mean LDL-C levels were 207mg/dl and the rest of the lipid profile are shown in Table 1. 26.4% of patients underwent genetic study, 6.2% had pathogenic variants and 14% variants of uncertain significance (VUS). Patients with some genetic variant had higher levels of LDL (217 vs209 mg/dl;p0.016), Lp(a) (92vs40mg/dl;p0.003) and Non-HDL (248 vs 236 mg/dl;p0.015), were younger (45 vs. 52 years; p0.019) and FaH<18 years-LDLhigh (43vs8%;p<0.001). Patients with pathogenic variants had higher levels of LDL (219vs201 mg/dl;p0.008), Lp(a) (102vs43mg/dl;p<0.001) and Non-HDL (270vs236mg/dl;d<0.001), were younger (32vs52years;p0.003), FaH of<18 years-LDLhigh (100% vs9%:p<0.001) and CVD FaH (100% vs32%;p<0.014), with no differences between patients with pathogenic variants and VUS in terms of lipid levels, but if age [pathogenic variants (32 years) vs VUS (50 years);p 0.016]. Conclusions In our study, 20% of probable diagnoses of FH present some type of genetic variant, influenced by age, LDL levels, Lp(a), Non-HDL and FaH of CVD and dyslipidemia.

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