A rare case of pulmonary emphysema.

Alpha-1-antitrypsin deficiency (AAT) is one of the three most common lethal genetic diseases in the caucasian population (together with cystic fibrosis and Down syndrome). Its primary manifestation is early-onset panacinar emphysema. Slowly progressive dyspnea is the primary symptom, although some patients initially have symptoms of cough, sputum production, or wheezing. A minority of patients develops hepatic cirrhosis. We present a case of a 40 year-old male, light smoker, with chronic obstructive lung disease with predominance of panacinar emphysema, with AAT deficiency (72 mg/dl; normal values = 200-300 mg/dl) complicated with cor pulmonale and chronic respiratory failure. The main clinical consequence of AAT deficiency is the early onset of panacinar emphysema, typically more severe at the lung bases. Smoking plays an important part in the natural history of the disease, both increasing the severity and decreasing the age at onset of emphysema.