New Horizons in the Pathogenesis, Pathophysiology and Treatment of Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) is an autosomal-dominant genetic disease and represents the most common genetic disorder: heterozygous 1/250 births, homozygous 1/300, 000 births. FH is characterized by high to very high low-density lipoprotein cholesterol (LDL-C), which is the main cause of increased incidence of premature atherosclerotic Cardiovascular Disease (CVD) or aortic stenosis.The aim of the review was to investigate the pathogenesis and the pathophysiology of FH.The most common (60-80%) FH cause is mutations of the LDL Receptor (LDLR) protein (6 classes with a different number of receptors and functionality). Moreover, mutations in apolipoprotein B (APOB)

Efficacy and safety of renal denervation for the management of arterial hypertension: A systematic review and meta-analysis of randomized, sham-controlled, catheter-based trials.

Despite the availability of a numerous antihypertensive agents, hypertension treatment and control rates remain low in many countries. The role of the sympathetic nervous system has long been recognized, but recent sham control renal denervation studies demonstrated conflicting results. In this reviewe paper, the authors performed a systematic review and meta‐analysis to examine outcomes of sham‐controlled studies utilizing new technologies and procedures. Six published randomized, sham‐controlled studies were included in this meta‐analysis. Of those, three trials used the first‐generation radiofrequency renal denervation device and technique and the other three used second‐generation devices and techniques. In total, 981 patients with hypertension were randomized in all 6 trials to undergo renal denervation (n = 585) or sham procedure (n = 396). Overall, renal denervation resulted in a decrease of 24‐hours systolic ambulatory blood pressure (ABP) by 3.62 mm Hg (95% CI: −5.28‐−1.96; I(2) = 0%), compared to sham procedure (GRADE: low). Renal denervation also reduced daytime systolic ABP by 5.51 mm Hg (95% CI: −7.79‐−3.23; I(2) = 0%), compared to sham procedure but not nighttime systolic ABP. Office systolic blood pressure was reduced by 5.47 mm Hg (95% CI −8.10‐−2.84; I(2) = 0%), compared to sham control. Further analysis demonstrated that second‐generation devices were effective in reducing blood pressure, whereas the first‐generation devices were not. These results indicate that effective renal denervation can result in significant and clinically meaningful blood pressure reduction. The second‐generation devices provide better renal nerve ablation