35-year-old woman with a long history of dyspnea, chronic cough, sputum production, and wheezing dies of respiratory failure following a bout of lobar pneumonia. She was not a smoker or an alcoholic. The lung autopsy is shown in the image. Which of the following underlying condition was most likely associated with the pathologic changes shown here ?
In this clinical scenario, a 35-year-old woman with chronic respiratory symptoms, including dyspnea, cough, sputum production, and wheezing, succumbs to respiratory failure after developing lobar pneumonia. The question asks to identify the underlying condition associated with the pathologic changes observed at autopsy.
The symptoms described, along with the patient's non-smoking status, suggest a chronic obstructive pulmonary condition. Let us analyze the options:
Mutation in dynein arms: This is indicative of Kartagener Syndrome, characterized by immotile cilia syndrome but typically presents with sinusitis, bronchiectasis, and situs inversus, not fitting this scenario.
Cystic fibrosis: This often leads to chronic lung infections and bronchiectasis. However, it is commonly diagnosed in childhood due to severe symptoms and pancreatic insufficiency, which does not align with the presented case.
Alpha 1 antitrypsin deficiency: This genetic condition leads to early-onset emphysema due to unchecked protease activity causing lung tissue breakdown, fitting the provided chronic respiratory symptoms and risk for pneumonia.
Antibodies against type 4 collagen: This involves Goodpasture's syndrome, which attacks lung and kidney membranes, presenting with hemoptysis and renal failure, not described here.
Given these analyses, Alpha 1 antitrypsin deficiency is the most likely underlying condition causing the emphysematous changes resulting in respiratory failure and increased susceptibility to infections like pneumonia in this patient.
