Up to now
alpha 1-antitrypsin (AAT) augmentation
therapy has been approved only for commercial use in selected adults with severe AAT deficiency-related
pulmonary emphysema (i.e. PI*ZZ genotypes as well as combinations of Z, rare and null alleles expressing AAT serum concentrations <11 μmol/L). However, the compassionate use of augmentation
therapy in recent years has proven outstanding efficacy in small cohorts of patients suffering from uncommon AAT deficiency-related diseases other than
pulmonary emphysema, such as
fibromyalgia,
systemic vasculitis, relapsing
panniculitis and
bronchial asthma. Moreover, a series of preclinical studies provide evidence of the efficacy of AAT augmentation
therapy in several
infectious diseases,
diabetes mellitus and organ transplant rejection. These facts have generated an expanding number of medical applications and patents with claims for other indications of AAT besides
pulmonary emphysema. The aim of the present study is to compile and analyze both clinical and histological features of the aforementioned published case studies and reports where AAT augmentation
therapy was used for conditions other than
pulmonary emphysema. Particularly, our research refers to ten case reports and two clinical trials on AAT augmentation
therapy in patients with both AAT deficiency and, at least, one of the following diseases:
fibromyalgia,
vasculitis,
panniculitis and
bronchial asthma. In all the cases, AAT was successfully applied whereas previous maximal conventional
therapies had failed. In conclusion, laboratory studies in animals and humans as well as larger clinical trials should be, thus, performed in order to determine both the strong clinical efficacy and security of AAT in the treatment of conditions other than
pulmonary emphysema.