A 50-year-old male subject of Tunisian origin, followed by our outpatient chronic obstructive pulmonary disease (COPD) clinic, a former smoker (about 10 cigarettes a day for 30 years, 15 pack/years) treated with a LAMA-based inhalation therapy, and with previous monolateral spontaneous pneumothorax, treated with thoracic drainage. He worked as a driver. The patient presented digital hippocratism and, upon chest auscultation, the vesicular murmur was greatly reduced.\nArterial blood gas analysis showed values in the normal range considering the subject's age: pH 7.35, pCO2 42.9 mmHg, pO2 89.5 mmHg, HCO3 22.6 mmol/L, and sO2 97%. The 6MWT, performed without oxygen supplementation, did not register any clinically significant desaturation but a slight reduction in the distance walked (411 m measured/512 m predicted). Electrocardiogram (ECG) parameters were within the normal limits. The chest HRCT showed a severe diffuse centrolobular and paraseptal emphysema (Fig. ).\nPulmonary function tests revealed a mild airway obstruction, with a negative bronchial reversibility test (Fig. ; Table ).\nSince the AAT serum concentration was lower than normal (87 mg/dL), the patient underwent a genetic investigation with verification of the PI*M1MMalton genotype. Blood chemistry tests (total and fractionated bilirubin, CPK, gamma GT, cholinesterase, AST, ALT and renal function indices) were in the normal range. Liver and abdominal ultrasound exams were negative for liver or aneurysmal disease.
A 43-year-old male subject, Italian Caucasian, affected by asthma and atopy, with prick tests positive since the childhood for dog and cat dander and grass pollen, treated with inhaled corticosteroids, long-acting ß2-agonists (ICS/LABAs) and long-acting muscarinic antagonists (LAMAs). The patient referred to our outpatient clinic for recurrent bronchitis and exertional dyspnoea. He was a former smoker (about 10 cigarettes a day for 20 years, 10 pack/years) at the time of the visit and a manual worker with no previous exposure to any toxic or irritating agent.\nUpon auscultation, he presented a slightly reduced vesicular murmur, with wheezing during forced expiration; oxygen saturation (SatO2) was 96% breathing room air and the heart rate was 71 bpm. Arterial blood gas measurement in breathing room air produced the following results: pH 7.46, pCO2 37 mmHg, pO2 91 mmHg, HCO3 27 mmoL/L, and sO2 97%.\nAAT serum concentration was 64 mg/dL, with a PI*M2MMalton genotype.\nComplete abdomen ultrasound exam did not identify hepatic or aneurysmal disease. Total and fractioned bilirubin, creatine phosphokinase (CPK), gamma-glutamyl transferase (gamma GT), cholinesterase, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) blood tests were in the normal range, as well as urea and creatinine; anti-neutrophil cytoplasmic antibodies (C-ANCA) and anti-myeloperoxidase antibodies (anti-MPO) were negative, while a marked increase in total IgE was detected (1260 IU/mL). Autoantibodies and eosinophils were also in the normal range.\nLung function tests showed an extremely severe obstructive ventilatory defect. The bronchial reversibility test was positive (Fig. ; Table ). The chest high resolution computed tomography (HRCT) excluded pulmonary emphysema, bronchiectasis and fibrosis. The six-minute walking test (6MWT), performed without oxygen supplementation, did not register any clinically significant desaturation but a slight reduction in the distance walked (440 m measured/546 m predicted). Echocardiographic parameters were in the normal range.