AORTIC AND CORONARY ATHEROMATOSIS IN A WOMAN WITH SEVERE HYPERCHOLESTEROLEMIA WITHOUT LDL RECEPTOR ALTERATIONS
| Autor: | V. Vaccarino, Guido Franceschini, G. Noseda, Giorgio Casari, E. Panzeri, Cesare R. Sirtori, Alberico L. Catapano, Francisco E. Baralle, Alberto Corsini, S. Guenzi, C. Fragiacomo |
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| Přispěvatelé: | Sirtori, Cr, Catapano, Al, Franceschini, G, Corsini, A, Noseda, G, Fragiacomo, C, Panzeri, E, Vaccarino, V, Guenzi, S, Casari, GIORGIO NEVIO, Baralle, F. |
| Rok vydání: | 1991 |
| Předmět: |
medicine.medical_specialty
Apolipoprotein B biology business.industry Cholesterol Arteriosclerosis Familial hypercholesterolemia medicine.disease Atheromatosis chemistry.chemical_compound Endocrinology chemistry Internal medicine LDL receptor biology.protein Medicine lipids (amino acids peptides and proteins) Hyperlipoproteinemia Type II Cardiology and Cardiovascular Medicine business Receptor |
| Zdroj: | Scopus-Elsevier |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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