[Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote].
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.
Ejarque
I
I
Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario, Universidad de Valencia.
Civer
M
M
Francisco Ascaso
J
J
Knecht
E
E
Eugenia Armengod
M
M
Carmen
R
R
Tomás Real
J
J
Francisco Chaves
J
J
Javier Martín De Llano
J
J
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL; D018110:Receptors, Lipoprotein; D013030:Spain
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D011973:Receptors, LDL; D018110:Receptors, Lipoprotein; C072413:apolipoprotein B receptor