Interactive Case Study: AATD – Alpha-1-Antitrypsin Deficiency
We present a case study of a man who was 41 years old at the time of his first contact with a pulmonary doctor. He came with symptoms of allergic seasonal rhinoconjunctivitis, proven sensitivity to spring trees, grasses, and dust mites, otherwise healthy, a parrot breeder. He is a former smoker with a smoking history of 20 pack-years. He was examined for exertional dyspnea, cough, recurrent respiratory infections, and wheezing. Try to follow the further diagnostic procedure and considerations with us, where you can choose between different options. At the same time, you will verify whether you proceeded correctly, along with the justification for the step taken.
In the objective findings, quiet breathing and occasional wheezing during forceful exhalation, normal saturation. Initial spirometry: VCmax 69%, FEV1 37%, FEV1/VCmax 42%, RV 306%; bronchodilator test with salbutamol negative. In the laboratory, the total IgE value was 90 IU/ml, 170 eosinophils/μl of peripheral blood.
We can certainly consider each of the mentioned possibilities for the patient. The patient has a borderline age for the diagnosis of chronic obstructive pulmonary disease (COPD) and reports significant exposure to inhaled noxae (smoking history). The basis of therapy for symptomatic patients with COPD are dual combinations of bronchodilator medications. The value of eosinophils in peripheral blood is < 300, which is currently established as the threshold at which we could also consider the benefit of therapy with inhaled corticosteroids (ICS) for COPD patients. The diagnosis of asthma, on the other hand, is supported by the information on sensitization to inhalant allergens, a slightly increased value of total immunoglobulin E, and clinical difficulties. The basis of bronchial asthma therapy is ICS, which have an anti-inflammatory effect. By combining them with LABA, we use the synergistic effect of both components, while the application in one dose improves treatment adherence and reduces the number of errors from using multiple inhalation systems. The ICS/LABA combination is certainly more suitable than monotherapy with ICS, also considering the existing obstructive ventilation disorder. Since the patient exhibits features of both diseases, both COPD and asthma, the consideration of ACO is also valid, and given the severity of the existing obstruction, the consideration of triple combination inhalation therapy right from the start is also valid.
Guidelines for the diagnosis and treatment of stable COPD recommend testing the level of alpha-1-antitrypsin at least once in every COPD patient. Additionally, this is a relatively young patient for both diagnoses – severe COPD and asthma with fixed severe obstructive ventilation disorder. In this case, the level of alpha-1-antitrypsin in serum was 0.21 g/l.
A patient with an AAT level < 0.5 g/l cannot be just monitored and left on inhalation medication therapy. Performing HRCT of the lungs and genetic testing is certainly appropriate. These tests are usually part of a comprehensive examination at a center that is also the only one authorized to initiate augmentation therapy with human alpha-1-proteinase inhibitor.
MUDr. Eva Voláková
Clinic of Pulmonary Diseases and Tuberculosis, UP Faculty of Medicine and University Hospital Olomouc
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