Smelt A H M
Leids Universitair Medisch Centrum, afd. Algemene Inwendige Geneeskunde, Postbus 9600, 2300 RC Leiden.
Ned Tijdschr Geneeskd. 2003 Jan 25;147(4):157-9.
Familial dysbetalipoproteinaemia is an autosomal recessive, hereditary disorder of lipid metabolism caused by mutations in the apolipoprotein E gene. Homozygosity for apoE2 (1 in 170 persons) causes type III hyperlipoproteinaemia in less than 20% of the adult E2 homozygotes. The patients may present with typical skin lesions and have elevated plasma levels of cholesterol and triglycerides, mainly in very-low-density lipoprotein remnants and intermediate density lipoproteins. The disorder is associated with peripheral and coronary artery disease. Additional genetic and environmental factors are necessary for the expression of this hyperlipoproteinaemia. Hyperinsulinaemia and defects in genes involved in the hydrolysis of triglycerides are associated with this disorder.
家族性异常β脂蛋白血症是一种常染色体隐性遗传性脂质代谢紊乱疾病，由载脂蛋白E基因突变引起。apoE2纯合子（170人中1人）在不到20%的成年E2纯合子中导致III型高脂蛋白血症。患者可能出现典型的皮肤病变，血浆胆固醇和甘油三酯水平升高，主要存在于极低密度脂蛋白残粒和中间密度脂蛋白中。该疾病与外周动脉疾病和冠状动脉疾病相关。这种高脂蛋白血症的表达还需要其他遗传和环境因素。高胰岛素血症以及参与甘油三酯水解的基因缺陷与该疾病有关。
