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.
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.