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 62-year-old male subject, Italian Caucasian, in good health conditions. The diagnosis of AATD was made following genotype analysis performed on the son of the subject (the patient in Case 1, with a PI*M2MMalton genotype). The patient had an AAT serum concentration of 69 mg/dL, with a PI*M3MMalton genotype. He was a former smoker (about four cigarettes a day for 5 years, 1 pack/years), and worked as a sandblaster craftsman, reporting powder working exposure.\nThe patient did not take any drug, and did not complain of any respiratory symptoms. The 6MWT, performed without oxygen supplementation, did not register a clinically significant desaturation and the distance walked was normal (424 m measured/530 m predicted). SatO2 was 100% breathing room air and the heart rate was 66 bpm. Upon thoracic auscultation, the vesicular murmur was preserved, with no pathological sound. Lung function tests were in the normal range (Table ). Blood count, liver function tests and renal function were in the standard reference range, while the total IgE concentration was 429 IU/mL. Chest X-ray showed no abnormality. Liver and abdominal ultrasound exams were negative for liver or aneurysmal disease. Prick tests were positive for dust mites, whereas bronchial hyperactivity assessed through the methacholine (MCh) test was negative.