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  EARLY DIAGNOSIS OF CAROTID ATHEROSCLEROSIS IN FAMILIAL
   HYPERCHOLESTEROLEMIA CAUSED BY PADUA-1 AND PADUA-4
                        MUTATIONS
               B. Sabini1, A. Calabro1, S. Martini1, G. Mazzetto1, L. Previato1,
              I. Cortella1, G. Maraglino1, G. Frigo1, S. Bertolini2, G. Crepaldi1
         1
             Azienda Ospedaliera di Padova, 2Department of Internal Medicine,
                                      Genoa, Italy
In Italy Padua-1 (A662G) is a common FH mutation, while Padua-4 (681-682 ins18)
was found only in one family; premature CHD is frequent (27 and 40% respectively),
the prevalence of extracoronary atherosclerosis is unknown. Our aim was to identify
early signs of carotid atherosclerosis in these FH subjects. 41 FH Padua-1 (20M/21F,
age 42.5±16.7) and 5 FH Padua-4 (3M/2F, age 34±13.9) were studied. Lipid and
lipoprotein values, Lp(a) and Hcy were determined. Carotid echo-doppler
ultrasonography with IMT measurement was performed using an Esaote AU4
instrument. In 137 healthy controls mean IMT was 0.71±0.14 mm, so in FH intima-
media thickening was defined as maximum IMT >1.0 mm (mean + 2S.D. of controls).
In Padua-1 mean LDL-C, HDL-C and Lp(a) were 267.5±65.1, 55.3±14.9 and 33.9±27.6
mg/dl. Endoluminal carotid plaques and/or intima-media thickening were found in
58.5% of subjects (11 M/13F). In these individuals LDL-C values (293.4±69.1 vs
230.4±35.4) and age (50.5±13.8 vs 31.1±13.7) were higher (p<0.005 and p<0.001
respectively) than in subjects with normal IMT, while no differences were found for
HDL-C, Lp(a), Hcy, hypertension and smoking prevalence. Mean IMT in the 32 Padua-
1 without plaques was 1.171±0.539 mm, higher than in 30 age-matched controls
(0.758±0.159, p=0.0002). IMT correlated with age (r=0.613, p=0.0002) and LDL-C (r =
0.595, p=0.013). In Padua-4 LDL-C and Lp(a) were 324.7±8.4 and 16.6±7.9
respectively. Intima-media thickening was found in 4 individuals (2M/2F); mean IMT
was 1.2±0.283 mm, higher than in controls. In conclusion: Padua-1 and Padua-4
mutations have a strong impact on premature carotid atherosclerosis; a deeper research
of risk factors leading to vascular disease is necessary.

				
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