Yale Center for Outcomes Research and Evaluation, New Haven, CT, USA.
Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Med Clin North Am. 2022 Mar;106(2):325-348. doi: 10.1016/j.mcna.2021.11.009. Epub 2022 Feb 10.
Genetic lipid disorders, ranging from common dyslipidemias such as familial hypercholesterolemia, lipoprotein (a), and familial combined hyperlipidemia to rare disorders including familial chylomicronemia syndrome and inherited hypoalphalipoproteinemias (ie, Tangier and fish eye diseases), affect millions of individuals in the United States and tens of millions around the world and are often undiagnosed in the general population. Clinicians should take into consideration the potential of inherited lipid disorders or syndromes when severe derangements in lipid parameters are observed. Patients' combined genotype and phenotype should be evaluated in conjunction with a host of environmental factors impacting their risk of atherosclerotic cardiovascular disease.
遗传性脂质代谢紊乱，范围从常见的血脂异常，如家族性高胆固醇血症、脂蛋白（a）和家族性混合型高脂血症，到罕见的疾病，包括家族性乳糜微粒血症综合征和遗传性低脂蛋白血症（如 Tangier 病和鱼眼病），影响着美国数百万人和全球数千万人的健康，而在普通人群中这些疾病往往未被诊断。当观察到脂质参数严重失调时，临床医生应考虑遗传性脂质疾病或综合征的可能性。应结合影响动脉粥样硬化性心血管疾病风险的多种环境因素，评估患者的综合基因型和表型。
