Ejarque I, Civer M, Francisco Ascaso J, Knecht E, Eugenia Armengod M, Carmen R, Tomás Real J, Francisco Chaves J, Javier Martín De Llano J
Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario, Universidad de Valencia.
Med Clin (Barc). 2001 Feb 3;116(4):138-41.
Familial ligand-defective apolipoprotein B 100 (FDB) is an autosomal inherited disease due to mutations on apo B 100, clinically indistinguishable from familial hypercholesterolemia (FH). We described the first Spanish homozygote for FDB.
We have screened R3500Q mutation of apo B gene (PCR-SSCP analysis) in a large family with FDB and have identified the first Spanish homozygote for FDB.
The homozygote is a 58 year-old man with coronary heart disease, no presence of xanthomata and with total cholesterol and LDL cholesterol plasma levels of 415 and 352 mg/dl. The response to statins and resins was up to 42% for total cholesterol and 51% for LDLc plasma values. The LDL receptor activity was normal in the FDB homozygote.
We have identified and characterised the first Spanish homozygote for FDB (R3500Q mutation). Our data indicate a moderate lipoprotein phenotype in FDB homozygote, different as expected comparing to homozygous FH.
家族性配体缺陷载脂蛋白B 100（FDB）是一种由于载脂蛋白B 100基因突变引起的常染色体显性遗传病，临床上与家族性高胆固醇血症（FH）难以区分。我们报道了首例西班牙籍FDB纯合子患者。
我们对一个患有FDB的大家族进行了载脂蛋白B基因R3500Q突变筛查（PCR-SSCP分析），并鉴定出首例西班牙籍FDB纯合子患者。
该纯合子患者为一名58岁男性，患有冠心病，无黄色瘤，血浆总胆固醇和低密度脂蛋白胆固醇水平分别为415和352mg/dl。使用他汀类药物和树脂治疗后，血浆总胆固醇下降了42%，低密度脂蛋白胆固醇下降了51%。FDB纯合子患者的低密度脂蛋白受体活性正常。
我们鉴定并描述了首例西班牙籍FDB（R3500Q突变）纯合子患者。我们的数据表明，FDB纯合子患者具有中度脂蛋白表型，与纯合子FH患者预期的表型不同。
