Aortic and coronary atheromatosis in a woman with severe hypercholesterolaemia without LDL receptor alterations
Articolo
Data di Pubblicazione:
1991
Citazione:
Aortic and coronary atheromatosis in a woman with severe hypercholesterolaemia without LDL receptor alterations / C.R. Sirtori, A.L. Catapano, G. Franceschini, A. Corsini, G. Noseda, C. Fragiacomo, E. Panzeri, V. Vaccarino, S. Guenzi, G. Casari. - In: EUROPEAN HEART JOURNAL. - ISSN 0195-668X. - 12:7(1991 Jul), pp. 818-824.
Abstract:
Familial hypercholesterolaemia (FH) is a monogenic disorder, with a strong family history, characterized by a deficiency in functional receptors for low density lipoproteins (LDL). The case of a patient with all the clinical traits of FH, including elevated cholesterol, xanthomas and early coronary and peripheral arterial lesions, but with a normal LDL receptor function, is described. In the patient the molecular weight and immunological properties of apolipoprotein (apo) B were normal; furthermore, autoantibodies to either LDL or to their receptor were also absent. The increased apo B/cholesterol ratio in LDL was compatible with the diagnosis of hyperapobetalipoproteinaemia. With the help of a turnover study using 131I homologous and 125I autologous LDL, it could be established that the patient had an almost three-fold increase in LDL-apo B biosynthesis, with, however, a fractional catabolic rate within normal limits. These findings pointed to the possibility of a genomic alteration in the region responsible for the control of apo B biosynthesis. However, extensive studies both at the cDNA level and in the 5' region of the apo B gene, failed to detect any significant alteration vs published nucleotide sequences. Although the exact mechanism for this unusual clinical presentation of an FH-like syndrome could not be uncovered, this case provides an extreme example of hypercholesterolaemia, with early and severe arterial disease, solely explained by an increased LDL biosynthesis.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
apo B hypersynthesis; Coronary atheromatosis; Hypercholesterolaemia; LDL receptor
Elenco autori:
C.R. Sirtori, A.L. Catapano, G. Franceschini, A. Corsini, G. Noseda, C. Fragiacomo, E. Panzeri, V. Vaccarino, S. Guenzi, G. Casari
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