Cardiovascular status of carriers of the apolipoprotein A-I(Milano) mutant: the Limone sul Garda study.

Abstract

BACKGROUND:

Carriers of the apolipoprotein A-I(Milano) (apoA-I(M)) mutant present with very low plasma HDL cholesterol and moderate hypertriglyceridemia, apparently not leading to premature coronary heart disease. The objective of this study was to establish whether this high-risk lipid/lipoprotein profile is associated with structural changes in the carotid arteries and heart, indicative of preclinical atherosclerosis.

METHODS AND RESULTS:

Twenty-one A-I(M) carriers were compared with age- and sex-matched control subjects from the same kindred and with 2 series of matched subjects with primary hypoalphalipoproteinemia (HA). Structural changes in the carotid arteries were defined as the intima-media thickness (IMT) measured by B-mode ultrasound. HA subjects, both recruited among patients attending our Lipid Clinic and blood donors, showed significant thickening of the carotids (average IMT, 0.86+/-0.25 and 0.88+/-0.29 mm, respectively) compared with control subjects (average IMT, 0.64+/-0.12 mm); the apoA-I(M) carriers instead showed normal arterial thickness (average IMT, 0.63+/-0.10 mm). Moreover, a significantly higher prevalence of atherosclerotic plaques was found in patients and blood donors with HA (both 57%) compared with apoA-I(M) carriers (33%) and control subjects (21%). Echocardiographic findings and maximal treadmill ECG did not differ significantly between apoA-I(M) carriers and control subjects, apart from a slight increase in left ventricular end-diastolic dimension in the carriers.

CONCLUSIONS:

Despite severe HA, carriers of the apoA-I(M) mutant do not show structural changes in the arteries and heart, in contrast to HA subjects, who are characterized by a marked increase in carotid IMT and increased prevalence of atherosclerotic plaques.

• Authors: C R Sirtori, L Calabresi, G Franceschini, D Baldassarre, M Amato, J Johansson, M Salvetti, C Monteduro, R Zulli, M L Muiesan, E Agabiti-Rosei
• Journal: Circulation (Circulation) Vol. 103 Issue 15 Pg. 1949-54 (Apr 17 2001) ISSN: 1524-4539 [Electronic] United States
• PMID: 11306522 (Publication Type: Clinical Trial, Comparative Study, Controlled Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Apolipoprotein A-I
• Cholesterol, HDL
• Cholesterol, LDL
• Cholesterol, VLDL
• Lipoproteins, HDL
• Triglycerides
• apolipoprotein A-I Milano
• Cholesterol

Topics

• Adult
• Apolipoprotein A-I (blood, genetics)
• Cardiac Output (genetics)
• Carotid Arteries (diagnostic imaging)
• Carotid Artery Diseases (blood, diagnosis)
• Cholesterol (blood)
• Cholesterol, HDL (blood)
• Cholesterol, LDL (blood)
• Cholesterol, VLDL (blood)
• Echocardiography
• Electrocardiography
• Exercise Test
• Female
• Heterozygote
• Humans
• Hypertriglyceridemia (blood, diagnosis, genetics)
• Lipoproteins, HDL (blood, deficiency, genetics)
• Male
• Triglycerides (blood)
• Tunica Intima (diagnostic imaging)
• Tunica Media (diagnostic imaging)