Familial hypercholesterolemia:The most common inherited type ofhyperlipidemia(highlipidlevels in the blood).Familial hypercholesterolemiais recognizable inchildhoodand is due to genetic defects in the receptor (target) for low-density脂蛋白(LDL). The most commonautosomal dominantform ofhypercholesterolemiais caused by mutation in the LDL receptor gene (LDLR) on chromosome 19. There are also a number of other less frequent forms of this disorder.Familialhypercholesterolemia predisposes a person to prematurearteriosclerosis, including冠状动脉疾病, and can lead to heart attacks at an unusually young age. Treatment involves dietary modifications and the use ofcholesterol-lowering medications.
