In conclusion, in patients with HeFH, physical signs (TX/CA) were positively correlated with positive genetic mutation, higher PCSK9 or hsCRP concentration, severity of coronary stenosis or calcification and independently associated with worse outcomes in case of clinically diagnosed FH, suggesting that physical signs may help in risk stratification of and developing treatment strategies for patients with HeFH. The gene discussed is PCSK9; the disease is familial hyperaldosteronism.