Researchers have reported a case in which a patient’s exacerbations of alpha-1 antitrypsin deficiency were successfully reduced with the use of augmentation therapy. The case report, published in Respiratory Medicine Case Reports, noted that the patient also had bronchiectasis and suggested that clinicians should consider AATD as a possible cause of this condition.

“Whilst there is currently no proof that AATD causes bronchiectasis, it is reasonable to think that the lack of [alpha-1 antitrypsin (AAT)] and therefore the lack of its anti-inflammatory properties may cause bronchial wall inflammation and eventually result in bronchiectasis,” the authors wrote.

The case involved a 53-year-old woman with a productive cough, increased susceptibility to infection, and intermittent hemoptysis. She had never smoked and had no emphysema. She had been on frequent inhalation therapy, but her symptoms and exacerbations were not well controlled.


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The patient was found to have reduced AAT levels, and genetic testing to determine the cause of her bronchiectasis revealed the Pi*ZZ genotype.

There have been reports that the ZZ phenotype is associated with a higher frequency of exacerbations and severe bronchiectasis.

Given the lack of efficacy of inhalation therapy, she was placed on off-label augmentation therapy with AAT, a serine protease inhibitor, at 60 mg/kg per week. The therapy was well tolerated, and she experienced a reduction in the frequency of exacerbations.

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AAT inhibits neutrophil elastase and plays a significant role in regulating inflammation, and it has been shown to slow disease progression in emphysema and AATD. Although there are currently no trials underway showing clinical improvement or slowing of disease progression in patients with bronchiectasis and AATD who receive augmentation therapy, this case report suggests that some patients may benefit from this approach. The authors recommend routine screening of patients with bronchiectasis for AATD.

Reference

Buck E, Presotto MA, Brock J, et al. Augmentation therapy with human alpha-1-proteinase inhibitor reduces exacerbations in patient with bronchiectasis and alpha-1-antitrypsin deficiency. Respir Med Case Rep. 2022;39:101740. doi:10.1016/j.rmcr.2022.101740