The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

摘要: Objective To ascertain whether the molecular characterization of a defect in low-density lipoprotein (LDL) receptor gene ( LDLR ) children with heterozygous familial hypercholesterolemia (heFH) identifies subjects at greater risk developing premature coronary artery disease (pCAD) later life. Study design We investigated 264 heFH from 201 families, along 148 affected parents and 100 unaffected siblings. The lipid profile was assessed before any treatment provided, genotype analysis performed to characterize defects. In subgroup controls, we measured aorta carotid intima-media thickness (aIMT cIMT). prevalence pCAD and/or grandparents recorded. Results family history had higher LDL cholesterol apolipoprotein B levels aIMT cIMT than those negative history. Compared carriers -defective mutations, -negative mutations more severe phenotype, terms plasma IMT, first-degree relatives (36% vs 6.7%; P Conclusions study children, which other factors for CAD play minor role, allows early identification increased pCAD, who merit stringent clinical control pharmacologic treatment.