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FH gene phenotypic expression: insight for therapeutic strategy

  • A. Gaddi
  • A. Ciarrocchi
  • G. Barozzi
  • M. Arca
  • G. Marra
  • G. Sermasi
  • P. Zucchelli
  • Z. Sangiorgi
  • A. Dormi
  • L. Finazzo
  • S. Rimondi
  • G. C. Descovich

Abstract

For the last few years an Official Health Research Project of the Emilia Romagna Region has been underway to define the best diagnostic and therapeutic strategy for familial hypercholesterolemia. The data collected to date, referring to a survey of more than 500 subjects, indicate the severity and early type of coronary and carotid atheromatous lesions in Italian heterozygotes but also report, unlike surveys in other countries, the low prevalence of xanthomata and of xanthelasmas. The aim of this paper is to discuss the current diagnostic possibilities in relation to the clinical-laboratory picture and to the therapeutic needs and cardiovascular instrumental diagnosis of the FH patient.

Keywords

Familial Hypercholesterolemia Familial Hypercholesterolemia Effort Angina Health Consensus Development Familial Hypercholesterolemia Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Gaddi, A., Braiato, A., Marra, M., Magri, G. L., Mezzetti, M., Minardi, A., Sangiorgi, Z. and Descovich G. C. (1986) ‘Familial hypercholesterolemias in Italy: plasma cholesterol evaluation and diagnostic insight’, in S. Lenzi and G. C. Descovich (eds.), Atherosclerosis and Cardiovascular Diseases, MTP Press, Lancaster, pp. 279–88.Google Scholar
  2. 2.
    Descovich, G. C., Gaddi, A., Mannino, G. and Lenzi, S. (1981) ‘L’indagine di Brisighella. I Fattori di Rischio Metabolici’, Giorn. It. Cardiol. 11, 1591–603.Google Scholar
  3. 3.
    Descovich, G. C., Dormi, A., Gaddi, A., et al. (1987) ‘From observational to Intervention Programmes. The Brisighella Study.’, in S. Lenzi and G. C. Descovich (eds.), Atherosclerosis and Cardiovascular Diseases Prevention. Lancaster, MTP Press, pp. 346–51.Google Scholar
  4. 4.
    National Research Council Atherosclerosis Research Group. (1981) Atherosclerosis risk factors in nine Italian population samples. Am. J. Epidemiol. 113, 338–343.Google Scholar
  5. 5.
    Mezzetti, M., Gaddi, A. and Rimondi, S. et al. (1987) ‘Familial Hypercholesterolemias in Emilia-Romagna Region.’, in S. Lenzi and G. C. Descovich (eds.), Atherosclerosis and Cardiovascular Disease, Bologna, Ed. Compositori, pp. 1001–5.Google Scholar
  6. 6.
    Ciairocchi, A., Gaddi, A., Barozzi, G., Marra, G., Colletta, M., Minardi, A., Nucci, S., La Regina, G., Sangiorgi, Z., Sermasi, G., Zucchelli, P. and Descovich, G. C. (1989) ‘Ageing in familial hypercholesterolemic patients: clinical and metabolic implications’ in G. C. Descovich, A. Gaddi and S. Lenzi (eds.), Atherosclerosis, Ed. Compositori, Bologna.Google Scholar
  7. 7.
    Ciarrocchi, A., Gaddi, A., Rimondi, S., Mezzetti, M. and Scaramuzzino, G. (1988) ‘Ipercolesterolemia Familiare: aspetti clinici’, Cardiologia 33 (11), 1055–60.PubMedGoogle Scholar
  8. 8.
    National Research Council. (1977) Laboratory Methods in Atherosclerosis Risk Factor Study. Ed. Dedalo, Bari, I, 1–76.Google Scholar
  9. 9.
    Manual of Laboratory Operations, (1974) Lipid Research Clinic Programme: Lipid and Lipoprotein Analysis. DHEW Publication no. ( NHI ) 75–628.Google Scholar
  10. 10.
    Lindgren, F. I., Jensen, L. C. and Hacth, F. T. (1972) ‘The isolation and quantitative analysis of serum lipoproteins’ in G. Wilson (eds.), Blood Lipids and Lipoproteins, Wiley & Sons Inc, pp. 181–207.Google Scholar
  11. 11.
    Ghisellini, M., Lelli, N., Cingi, M. R., Tiozzo, R., Calandra, S., Gaddi, A., Vergoni, W., Arca, M., Cortese, C., Pintus, F. and Bertolini, S. (1989) ‘A survey of mutations of LDL - receptor gene in Italian patients with familial hypercholesterolemia’, Atherosclerosis, in press.Google Scholar
  12. 12.
    Lenzi, S., Bucci, A., Crepaldi, G., Mancini, M., Menotti, A., Paoletti, R., Spagnoli, L. G., Ventura, A. and Weber, G. (1986) ‘The CNR Program of Preventive Medicine - SP4 Ob. 44. Non-invasive techniques for the evaluation of atherosclerotic plaque progression or regression’, in A.Ventura, G. Crepaldi, U. Senin (eds.), Extracoronary Atherosclerosis. Monograph on Atherosclerosis, Karger, pp 83–90.Google Scholar
  13. 13.
    Rose, G. A., and Blackburn, H. (1967) ‘Cardiovascular survey methods’, Geneva, Wld. Hlth. Org. Ed.Google Scholar
  14. 14.
    Crepaldi, G. (1986) ‘Le Iperlipoproteinemie’ Atti 87° Congresso Societa’ Italiana Medicina Interna, Pozzi Editore, Roma, pp. 3–94.Google Scholar
  15. 15.
    National Institutes of Health Consensus Development Conference statement (1985) ‘Lowering blood cholesterol to prevent heart disease’, JAMA, 253, 2080–6.CrossRefGoogle Scholar
  16. 16.
    Italian Consensus Conference, May 1986. ‘Abbassare la colesterolemia per ridurre la cardiopatia ischemica’. National Research Council ed., Rome.Google Scholar
  17. 17.
    European Atherosclerosis Group, June 19–20th, 1986. ‘A strategy for the prevention of coronary heart disease, a policy statement of the European Atherosclerosis Group’, Naples.Google Scholar

Copyright information

© Kluwer Academic Publishers 1990

Authors and Affiliations

  • A. Gaddi
    • 1
  • A. Ciarrocchi
    • 1
  • G. Barozzi
    • 1
  • M. Arca
    • 1
  • G. Marra
    • 1
  • G. Sermasi
    • 1
  • P. Zucchelli
    • 1
  • Z. Sangiorgi
    • 1
  • A. Dormi
    • 1
  • L. Finazzo
    • 1
  • S. Rimondi
    • 1
  • G. C. Descovich
    • 1
  1. 1.University of BolognaBolognaItaly

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