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 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.