[Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia].
The authors have studied 8 patients with Homozygous Familial Hypercholesterolemia (FHO) an autosomal genetic dominant disease due to mutation of the gene encoding a cell surface receptor for LDL. Anatomic and pathologic abnormalities caused by LDL-cholesterol and B-Apolipoprotein high plasma levels were found. We also measured malondialdehyde levels in plasma and atherosclerotic plaques of the only autoptic case observed. MDA-levels are an index of lipid peroxidation. Cutaneous xanthomatosis lesions and severe cardiovascular disease were also present.
D'Armiento
F P
FP
Istituto di Anatomia patologica, II Facoltà di Medicina e Chirurgia, Università, Napoli.
Di Gregorio
F
F
Napoli
C
C
Colasanti
P
P
Posca
T
T
Calì
A
A
D000328:Adult; D001055:Apolipoproteins B / Q000097:blood; D001057:Apolipoproteins E / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004452:Echocardiography; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008315:Malondialdehyde / Q000097:blood; D011973:Receptors, LDL / Q000032:analysis
D001055:Apolipoproteins B; D001057:Apolipoproteins E; D008078:Cholesterol, LDL; D011973:Receptors, LDL; D008315:Malondialdehyde
Valutazione clinico-patologica in pazienti affetti da ipercolesterolemia familiare omozigote.