The emphysema is one of the most dangerous chronic obstructive bronchopneumopathy.
It represents the fourth cause of mortality in the western countries. It is
characterized by a permanent and progressive destruction of the lung architecture.
The aetiology is not known but the relationship with smoke habitude and powder
exposure seems to be important. Some of these patients presents altered serum
levels of Alpha 1 antitrypsin, an antiprotease that provides the major defense
for the lower respiratory tract against the ravages of neutrophil elastase,
a powerful destructive protease. The loss of this protective screen of the fragile
alveolar walls results in emphysema. For several years the therapy consisted
only on bronchodilators and steroids, oxygen administration, respiratory rehabilitation,
smoke abstinence. The progressive pattern of the disease encouraged also surgical
solutions such as the lung volume reduction, which has become an accepted treatment
for selected patients. The procedure shows a wide range of therapeutic response
and, in some patients, with undefined phenotype, is highly effective. A specific
genetic background may be responsible for this differential effect.
The following correlations will be carried out:
- Genotype-phenotype correlation in patients with different grade of emphysema
and plasma levels of alpha-1-antitrypsin;
- Genotype-phenotype correlation in patients with emphysema and SNPs at the
examined loci (see WP2);
- Correlation between genotype and clinical status of patients with emphysema
before and after lung volume reduction surgery.