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 57-year-old woman of Moroccan origin suffering from an end-stage kidney disease was admitted for pre-kidney transplant investigations. Her medical story revealed diabetes with various peripheral vascular complications but neither pulmonary nor hepatic dysfunction. Serum electrophoresis revealed a double α1-globulin peak, suggesting the presence of a Pi A1AT protein variant in the heterozygous state. The A1AT IEF phenotype was noted Pi M1/Pi M2 but because of an abnormally low serum concentration (69 mg/dL), DNA sequencing was performed and revealed a Pi M1/Pi Mmalton genotype.