We analysed clinical and genetic data of 819 non-related familial hypercholesterolemia patients. No differences on baseline low density lipoprotein (LDL) cholesterol levels between females and males were observed. High density lipoprotein (HDL) cholesterol values were higher in females than in males (57+/-15 vs. 47.7+/-13, respectively, P<0.01). Premature cardiovascular disease was present in 21.7% of cases (30.8% in males and 14.3% in females, P<0.001). A significant and positive correlation was observed between cardiovascular disease and age, gender, tobacco, total and LDL cholesterol levels at diagnosis, and negatively with HDL cholesterol levels. Analysis of LDL-receptor gene have been performed in 350 cases and 86 different mutations have been found.