Repeated Episodes of Respiratory Failure Due to Undiagnosed AAT Deficiency – Case Report
The case report from authors in Naples shows that alpha-1-antitrypsin deficiency (AATD) should be considered when respiratory symptoms occur at any age. It also illustrates the diagnostic procedure in such cases and confirms the effectiveness of subsequently initiated therapy.
Manifestations of AAT Deficiency
Alpha-1-antitrypsin deficiency is a rare genetic disease that leads to the loss of lung tissue. Due to the non-specific nature of respiratory symptoms, it is often not recognized or clinically diagnosed in time. It is characterized by various respiratory manifestations, including pulmonary emphysema, chronic obstructive pulmonary disease (COPD), asthma, airway hyperresponsiveness (AHR), and bronchiectasis. Delays in diagnosis and treatment can lead to a complicated course of AATD.
Case Description
Medical History
Doctors from a university hospital in Naples described the case of a 69-year-old female patient – a Caucasian non-smoker – with severe bronchial hyperresponsiveness and numerous exacerbations. In her younger years, she experienced occasional wheezing, sporadic episodes of respiratory exacerbations, intense shortness of breath, and asthma-like symptoms. Over the past 10 years, she had six episodes of respiratory failure per year. In the last 3 years, she was hospitalized twice and discharged with the diagnosis of
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