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  • Title: [Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote].
    Author: 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.
    Journal: Med Clin (Barc); 2001 Feb 03; 116(4):138-41. PubMed ID: 11222161.
    Abstract:
    BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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