植物固醇血症的研究进展

Advances in Studies on Phytosterolemia

植物固醇血症是一种罕见的常染色体隐性遗传脂质代谢性疾病,因三磷酸腺苷结合盒家族G的ABCG5和ABCG8基因突变而致病。其特征是植物固醇吸收增加和经胆汁排泄减少,导致血清中植物固醇浓度显著升高。该病临床表现多样化,可同时出现多系统受累,主要表现为皮肤黄瘤、早发型动脉粥样硬化、溶血性贫血、巨大血小板减少、关节炎和关节痛等。文章从植物固醇血症的流行病学、发病机制、临床表现、治疗策略等方面进行综述,旨在提高临床医生对该病的认识。

Phytosterolemia is a rare autosomal recessive lipid metabolic disease caused by mutations in either ATP-binding cassette subfamily G member 5(ABCG5)or member 8(ABCG8).It is characterized by increased absorptionof plant sterolsand decreased biliary excretion,resulting in prominently increased concentrations of plant sterols in serum.The clinical manifestations of phytosterolemia are diverse,and multiple systems can be involved.The main manifestations are skin xanthoma,premature coronary atherosclerosis,hemolytic anemia,giant thrombocytopenia,arthritis,and arthralgia.This article reviewsthe epidemiology,pathogenesis,clinical manifestations and treatment strategies of phytosterolemia in order to improve clinicians’understanding of this disease.