A new ABCA1 mutation associated with low HDL cholesterol but without coronary artery disease.
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ATP Binding Cassette Transporter 1↗
Biomedical subjects
Genovefa Kolovou
Publications and source records attributed to Genovefa Kolovou.
Apolipoprotein E polymorphism and atherosclerosis.
The relationship between apolipoprotein (apo) E and vascular disease has been the subject of a considerable amount of research. However, this relationship is far from clearly defined. This deficiency appears to be due to a multitude of factors. Among these are differences in ethnicity, age (and possibly gender), diagnostic criteria, and environmental factors (eg, diet and smoking) that have contributed to the contradictory findings. Several diseases and their treatment may also influence this relationship. There are also documented interactions between apo E genotypes and other genes or vascular risk factors. One possible clinically relevant application of identifying the apo E genotype could be to assess the response to a particular drug treatment. It may also be that apo E polymorphism will become a good predictor of vascular death (eg, from myocardial infarction or stroke) rather than an indicator of the risk of developing vascular disease but without an acute ischemic event. More research is required to define the place of apo E genotyping in the management of vascular disease in its various forms. Whatever the future brings, the evaluation of apo E genotypes will need to be rapid, cheap, and technically undemanding before this investigation becomes widely available and clinically relevant.
Apolipoproteins E↗
Association of apolipoprotein E polymorphism with myocardial infarction in Greek patients with coronary artery disease.
Studies in several populations have indicated that genetic variation at the apolipoprotein E (apoE) structural locus influences the risk of coronary artery disease (CAD) and myocardial infarction (MI). This study aimed at investigating whether apoE polymorphism has an allelic and/or genotypic impact on the risk of MI in Greek patients with CAD. We compared apoE gene polymorphism in a group of patients with angiographically confirmed CAD but not MI [CAD/MI (-)-group, n = 143] and a group of age and sex-matched CAD patients who had experienced a non-fatal Ml [CAD/MI (+)-group, n = 124]. The patients were also compared with a group of healthy younger individuals (n = 240) with no family history of CAD. The apoE genotype distribution differed significantly between the two groups of CAD patients (p = 0.02). The epsilon2 allele was 5.3-fold less frequent in the CAD/ MI (+)-group compared with the CAD/MI (-)-group (1.2% vs. 6.3%, p = 0.01). The frequency of the epsilon2 allele in healthy subjects was 8.1%, which is 6.8-fold higher than in CAD/MI (+)-patients (p = 0.001) and twice as high compared with all CAD patients (p = 0.02). No differences in epsilon4 allele frequencies were observed between CAD/MI (+)- and CAD/MI (-)-patients (10.9% vs. 9.8%), or between patients with CAD and healthy subjects (10.3% vs. 10.2%). In summary, the epsilon4 allele was not found to be associated with an increased risk for CAD or MI. In contrast, a negative association of the epsilon2 allele with Ml was observed among Greek patients with CAD.
Adult↗
Regression of Achilles tendon xanthomas evaluated by CT scan after hypolipidemic treatment with simvastatin. A case report.
Familial hypercholesterolemia (FH) is a relatively common autosomal monogenic disease with dominant inheritance and threefold to fourfold increase in relative risk of cardiovascular death in untreated patients. For a "definitive" clinical diagnosis of FH the Simon Broome Register proposes the presence of tendon xanthomas as a key feature. However, detection of tendon xanthomas by physical examination is subjective and difficult to use for follow-up purposes. Several instrumental methods have been reported to be more sensitive than physical examination for the evaluation of xanthomas. The present case illustrates the usefulness of computed tomography (CT) to detect xanthomas in the Achilles tendons (XAT) and their regression in response to hypolipidemic drug treatment in a heterozygous FH patient. As XAT are atherosclerotic plaque-like depositions of lipids it is likely that their progression or regression follows the behavior of vascular atherosclerotic lesions.
Achilles Tendon↗
Registration of antithrombotic policy for the management of acute coronary syndromes in the Greek population.
INTRODUCTION: In this study an attempt was made for the first time in the Greek population to register the antithrombotic medication given to patients with acute coronary syndromes (ACS), both during their hospitalisation and on discharge. METHODS: The study was designed to include all patients with ACS in a total of 22 hospitals in Athens and other parts of Greece. An analysis was made of differences in the administration of antithrombotic agents in relation to region, sex and age. RESULTS: From the data recorded it emerged that patients in Athenian hospitals more often receive aspirin and heparin than do those in other regions. Also, women with acute myocardial infarction are given aspirin and platelet glycoprotein IIb/IIIa inhibitors less frequently than men. In addition, elderly patients with non-Q infarction and unstable angina are treated less often with clopidogrel than are younger patients. CONCLUSIONS: A large number of patients with ACS do not receive antithrombotic medication in accordance with the guidelines. Furthermore, it appears that population groups who are considered to have higher risk and poorer prognosis, such as the elderly and women, are undertreated.
Aged↗