Assessment of subclinical atherosclerosis with coronary calcium score in heterozygous familial hypercholesterolemia

Background Heterozygous familial hypercholesterolaemia (HeFH) confers a high risk of cardiovascular disease (CVD) due to elevated levels of LDL-cholesterol (LDL-C). The aim of this study is to assess the influence of clinical and genetic factors on coronary artery calcium (CAC) score in patients with HeFH.Methods CAC score were obtained for 129 genetically confirmed HeFH patients from NAGENCOL project, who had no CVD. Association of CAC with clinical and genetic variables as well as with the SAFEHEART-risk equation (SAFEHEART-RE) was evaluated.Results 65 patients had CAC = 0 (50.4%), 24 had CAC score between 1 and 99 (18.6%), and 40 had a score of ≥100 (31%). Individuals with a CAC score ≥100 were older (56.5 years vs. 39 years for those with a CAC score of 0, p < 0.001). They also had a higher prevalence of classical risk factors and history of CAD in the family. In addition, this group had higher maximum LDL-C levels (308.8 mg/dL vs. 262.5 mg/dL, p < 0.001), higher age at genetic diagnosis (45 years vs. 31.3, p < 0.001) and at the beginning of Treatment (34.5 years vs. 26.6, p = 0.002). Consequently, the cumulative LDL-C throughout their life was higher (13745.3 mg/dL vs. 8693.2 mg/dL, p < 0.001). There was a correlation between the results of the SAFEHEART-RE and CAC score.Conclusions Early diagnosis and early initiation of appropriate treatment are essential for reducing the accumulated cholesterol burden in patients with HeFH. Given the heterogeneity in CVD in patients with HeFH, tools such as the SAFEHEART-RE and CAC score may be useful for better risk stratification.