We present a case of a 64 year old male, former smoker of 15 pack-years with past medical history of malaria and obesity, admitted at outpatient clinic for suspicion of chronic liver disease and hemochromatosis. A diagnosis of cirrhosis (Child-Pugh B7 and MELD-Na 14, and signs of hypertensive gastropathy) was established.\nAlthough there was a known alcohol consumption of approximately 90gr/alcohol/day, an extended etiological study was preformed, identifying an AAT value of 70,9 mg/dL (nephelometry), and an iron overload (total iron [Fe] of 204ug/dL; ferritin of 1078ng/ml and transferrin saturation of 99%), without primary hemochromatosis (heterozigosity for the H63D gene). Immune, copper and virology tests were negative.\nSimultaneously, the patient complained of fatigue, cough and exertion dyspnoea, without relevant findings on physical examination. Further investigation revealed a pattern of probable UIP and no emphysema in high-resolution computed tomography (HRCT) (). Bronchoscopy was unremarkable, with no microbiological agents identified, and a bronchoalveolar lavage (BAL) showing increased cellularity, with 94,0% macrophages, 5,0% lymphocytes, 1,0% neutrophils, and 0% mast cells and eosinophils. Lung function tests (LFT) were normal [post-BD FEV1/FVC 87,8; post-BD FEV1 98,4%pred; post-BD FVC 87,1%pred; TLC 89,7%pred and RV 113,9%pred], except for a moderately decreased diffusing capacity for CO (DLCO) [49% predicted]. Arterial blood gas showed hypoxemia of 68mmHg and the six-minute walking test showed a 10% decrease in peripheral oxygen saturation. No occupational risk exposures were described, and autoantibodies screening and rheumatologic evaluation were negative.\nMultiplex polymerase chain reaction combined with restriction fragment length polymorphism () detected a heterozygous MPalermo allele (M1MPalermo).\nDuring the investigation, the patient presented hyperglycaemias above 200mg/dL and a glycated haemoglobin of 13.6%, hence diagnosing type-2 diabetes mellitus.\nThus the final diagnoses of concomitant type-2 diabetes, alcoholic and AATD cirrhosis, secondary iron overload, and idiopathic pulmonary fibrosis (IPF) were established. For the first, blood glucose control was achieved with long-acting insulin, for the second, alcohol abstinence was implemented, and for the latter pirfenidone was started as well as portable oxygen concentrator.\nThe patient’s two daughters were tested, showing normal AAT levels.\nAt 6-months the patient remains stable, without hospital or emergency admissions.
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.