Abstract
BackgroundGenerally, alpha-1 antitrypsin deficiency (AATD) is suspected in young patients with pulmonary emphysema or chronic obstructive pulmonary disease (COPD). Patients often suffer from diagnostic gaps and are misdiagnosed with chronic obstructive pulmonary disease (COPD), asthma, and airway hyperresponsiveness (AHR), as AATD may present with nonspecific respiratory symptoms. It is never too late to suspect AATD, especially in a patient with an unusual medical history. In recent years, evidence is beginning to emerge that there may be value in identifying and treating patients who do not already have deterioration of functional parameters.Case presentationWe describe a case of a 69-year-old Caucasian female patient, late diagnosis of AATD, with both severe bronchial hyperreactivity and numerous exacerbations due to the peculiar clinical history and the presence of a rare mutation; although not presenting forced expiratory volume in 1 second (FEV1) between 30 and 65%, the patient was treated with alpha-1 antitrypsin (AAT) augmentation therapy and achieved clinical and functional improvement.ConclusionAATD should always be suspected. The Alpha-1 Foundation recommendations for the diagnosis and management of AATD in adult patients indicate that treatment should be provided for patients with FEV1 between 30 and 65%. It may be useful to evaluate and treat patients based on clinical symptoms, even outside the established parameters, in particular cases.
Highlights
ConclusionIt may be useful to evaluate and treat patients based on clinical symptoms, even outside the established parameters, in particular cases
Alpha-1 antitrypsin deficiency (AATD) is suspected in young patients with pulmonary emphysema or chronic obstructive pulmonary disease (COPD)
The Alpha-1 Foundation recommendations for the diagnosis and management of alpha-1 antitrypsin deficiency (AATD) in adult patients indicate that treatment should be provided for patients with F EV1 between 30 and 65%
Summary
These data strongly support a recommendation to always suspect AATD in the presence of respiratory symptoms at any age, and above all to promote greater awareness of this genetic condition, which is still under-recognized more than 50 years after its discovery. The latest Alpha-1 Foundation recommendations for the diagnosis and management of AATD in adult patients supports replacement therapy in individuals with FEV1 of 30–65% [14], but emerging data showing that it can be useful for diagnosis and treatment of patients outside of previously established parameters [15]. Data on these cases need to be collected to better understand the role of augmentation therapy. AAT augmentation therapy is the only treatment available that addresses the underlying cause of AATD, symptomatic therapy and lifestyle changes may be of benefit to all patients
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