Identificación y caracterización del primer español con defecto homocigoto familiar de unión de la apolipoproteína B
2001; Elsevier BV; Volume: 116; Issue: 4 Linguagem: Inglês
10.1016/s0025-7753(01)71750-2
ISSN1578-8989
AutoresJosé T. Real, Ismael Ejarque, Miguel Civera, Juan F. Ascaso, Rafael Carmena, Felipe Javier Chaves, José Javier Martı́n de Llano, E Knecht, M.‐Eugenia Armengod,
Tópico(s)Atherosclerosis and Cardiovascular Diseases
ResumoFamilial 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.
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