Alpha-1-antitrypsin deficiency

Abstract

Introduction: Alpha-1-antitrypsin deficiency (A1AD) is a hereditary disorder, caused by insufficiency or lack of hepatic enzyme alpha-1-antitrypsin, which blocks neutrophil elastase. A1AD could affect any organs, but mostly the respiratory system is involved. A1AD pulmonary manifestations are panacinar emphysema and COPD. Usually emphysema appeal's at the age of 30 - 40 years old, in smokers A1 AD subjects, but also can occurred at 50-60 years old in A1 AD patients how have never smoked. Clinical Case: 41 years old man, current smoker (smoker index - 30 packs/year), was admitted for dyspnea at rest, cough with mucopurulent sputum, 38°C fever, loss of appetite and asthenia. At the same time he mentioned that he has experienced a progressive dyspnea during the last four years. Physical exam revealed: low body weight (BMI 18.5), tachycardia (HR-130 beats/min), tachypnea (RR-26/min) andSa02-91% (F i0 2-21%). Signs of lung hyperinflationas well assigns of pulmonary consolidation were found. Laboratory data highlighted leukocytosis up to 16x109/l and increased ESR 52 mm/hour. On ECG - signs of pulmonary cord were attested. The chest X ray revealed bilateral opacities in S9-S10, andradiographic signs of pulmonary hyperinflation. Pulmonary function tests shown obstructive abnormalities (FVC-38%, VEMS-20%, VEMS/FVC -56%) with hyperinflation (RV-188%) and a decreased gas transfer factor (DLCO27%). Chest CT scan revealed diffuse panlobular emphysema and apical areas of centrilobular emphysema, thickening of the bronchial walls, and basal areas of pulmonary consolidation in both lungs. The serum level of alpha-1-antitrypsin was 0.27 g/1 (normal range 0.9 to 2 g/1). Results: In 2003, ERS/ATS has published the guidelines on the diagnosis and management of the A1 AD. The groups of patients in whom A1 AD testing is recommended are young adults with persistent bronchial obstruction syndrome, emphysema, COPD, asthma and asymptomatic individuals with persistent bronchial obstruction or those with such risk factors as smoking or occupational exposure. Conclusion: A1AD is an underdiagnosed disease in patients with chronic obstructive pulmonary disease. The gold standard for A1AD diagnosis is the genetic test (determining the pathogenic version of the gene encoding alpha-1-antitrypsin - SERPINA1), but for screening purpose, methods of quantitative assessment of serum levels of alpha-1-antitrypsin may be useful.