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Aims: Three physical signs, namely tendon xanthomas, corneal arcus and xanthelasma, have been associated with heterozygous familial hypercholesterolemia (heFH). The prevalence and clinical significance of these signs are not well established among contemporary heFH individuals. This study explored the frequency as well as the association of these physical signs with prevalent atherosclerotic cardiovascular disease (ASCVD) in heFH individuals., Methods: Data from the Hellenic Familial Hypercholesterolemia Registry were applied for this analysis. The diagnosis of heFH was based on the Dutch Lipid Clinic Network Score. Multivariate logistic regression analysis was conducted to examine the association of heFH-related physical signs with prevalent ASCVD., Results: Adult patients ( n  = 2156, mean age 50 ± 15 years, 47.7% women) were included in this analysis. Among them, 14.5% had at least one heFH-related physical sign present. The prevalence of corneal arcus before the age of 45 years was 6.6%, tendon xanthomas 5.3%, and xanthelasmas 5.8%. Among physical signs, only the presence of corneal arcus before the age of 45 years was independently associated with the presence of premature coronary artery disease (CAD). No association of any physical sign with total CAD, stroke or peripheral artery disease was found. Patients with physical signs were more likely to receive higher intensity statin therapy and dual lipid-lowering therapy, but only a minority reached optimal lipid targets., Conclusion: The prevalence of physical signs is relatively low in contemporary heFH patients. The presence of corneal arcus before the age of 45 years is independently associated with premature CAD., (Copyright © 2024 Italian Federation of Cardiology - I.F.C. All rights reserved.)

Aims: Lipoprotein(a) [Lp(a)] is an independent risk factor for atherosclerotic cardiovascular disease (ASCVD) in the general population. However, such a role in patients with familial hypercholesterolemia (FH) is less documented. The purpose of this study was to evaluate the association between Lp(a) concentrations and ASCVD prevalence in adult patients with FH., Methods: This was a cross-sectional study from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH). Patients were categorized into 3 tertiles according to Lp(a) levels., Results: A total of 541 adult patients (249 males) with possible/probable/definite FH heterozygous FH (HeFH) were included (mean age 48.5 ± 15.0 years at registration, 40.8 ± 15.9 years at diagnosis). Median (interquartile range) Lp(a) concentrations in the 1st, 2nd and 3rd Lp(a) tertile were 6.4 (3.0-9.7), 22.4 (16.0-29.1) and 77.0 (55.0-102.0) mg/dL, respectively. There was no difference in lipid profile across Lp(a) tertiles. The overall prevalence of ASCVD was 9.4% in the first, 16.1% in the second and 20.6% in the third tertile (p = 0.012 among tertiles). This was also the case for premature ASCVD, with prevalence rates of 8.5, 13.4 and 19.8%, respectively (p = 0.010 among tertiles). A trend for increasing prevalence of coronary artery disease (8.3, 12.2 and 16.1%, respectively; p = 0.076 among tertiles) was also observed. No difference in the prevalence of stroke and peripheral artery disease was found across tertiles., Conclusions: Elevated Lp(a) concentrations are significantly associated with increased prevalence of ASCVD in patients with possible/probable/definite HeFH., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Statins remain the cornerstone of hypolipidaemic drug treatment. However, statins exert adverse effects on glucose metabolism. Given that new onset diabetes mellitus (NODM) and worsening of glucose control in patients with established type 2 diabetes mellitus (T2DM) is related to low density lipoprotein cholesterol (LDL-C) reduction, it would be of great interest to investigate if this is also the case for proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors, which have recently be licensed for the treatment of hypercholesterolaemia., Methods: We reviewed the published papers on the relation between circulating PCSK9 and diabetogenesis., Results: Recent data suggest that increased circulating PCSK9 levels, besides causing dyslipidaemia, are related to increased glucose levels, metabolic syndrome, and even T2DM. On the contrary, fasting plasma glucose and HbA1c levels are not adversely affected during treatment with human antibodies against PCSK9 in patients at low risk for T2DM, in patients at high risk of T2DM and in patients with established T2DM. Plasma lipoproteins (mainly LDL-C reduction) are similarly affected in patients with or without T2DM, and recent data suggest that PCSK9 inhibition might reduce cardiovascular events in patients with T2DM at least as much as in those without T2DM., Conclusion: The use of PCSK9 inhibitors appears to be related to a substantial clinical benefit without adversely affecting glucose metabolism and without increasing the incidence of NODM. Large ongoing studies will have to confirm these findings before expanding the use of these agents., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.)