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.
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.