Progress in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a serious hereditary metabolic disease. It is clinically divided into homozygous and heterozygous.The incidence of homozygous FH(HoFH) is 1/(160 000-1 000 000) and considered as a rare disease. HoFH is characterized by very high levels of low density lipoprotein cholesterol, multi-sited yellow tumors, and atherosclerosis cardiovascular disease. Without prompt diagnosis and early treatment, myocardial infarction and even death can occur in adolescence. In recent years, the international community has paid more and more attention to the early diagnosis and treatment of FH, and issued a number of guidelines and consensus on FH. China has also developed a screening and diagnostic standard suitable for Chinese people in combination with national conditions, which provides bases for better treatment of FH. This article reviewed HoFH's existing diagnostic criteria, differential diagnostic screening, and treatment methods, to improve physicians' understanding of the disease.