Abstract

Familial hypercholesterolemia is a rarely genetic disorder of lipid metabolism.The Clinical manifestations are high serum cholesterol, yellow tumor, corneal arch, atherosclerosis, or early coronary heart disease.Recently, we have been made great progress on Familial hypercholesterolemia in domestic and foreign researches, but our understanding is still insufficient.We aim to overview genetics and current perspectives on diagnosis and treatment.Prompt diagnosis, intervention of individualized drug treatment control and follow-up management contribute to increase awareness, and add decades of life for people with Familial hypercholesterolemia. Key words: Familial hypercholesterolemia; Low density lipoprotein; Low-density lipoprotein cholesterol; Genetics; Diagnosis; Treatment

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