Alpha-1 antitrypsin (AAT) deficiency, an autosomal co-dominant inherited condition, significantly impacts lung and liver functions, with mutations in the SERPINA1 gene, notably the Z allele, playing a pivotal role in disease susceptibility. This retrospective descriptive study from a rural Eastern Kentucky pulmonary clinic aimed to characterize patients with AAT deficiency, focusing on demographic, clinical, and laboratory parameters extracted from electronic health records (EHR) of Appalachian Regional Healthcare (ARH). Among 100 patient encounters, 56 were analyzed, revealing notable sex-based differences in smoking rates and co-existing conditions, with males showing higher rates of black lung and chronic obstructive pulmonary disease. In comparison, females exhibited higher rates of asthma, COVID-19, pneumothorax, and obstructive sleep apnea. The study emphasizes the importance of understanding genotype-phenotype correlations and demographic factors in assessing AAT deficiency, advocating for further research to refine management strategies and elucidate causal relationships.
Immune checkpoint inhibitors emerged as a novel powerful group of anti-cancer therapies frequently changing the outcomes of previously hopeless cases in oncology. De novo development of autoimmune diseases unfortunately may occur with their use. Cases of autoimmune hepatitis, myocarditis, pancreatitis thyroiditis, myasthenia gravis, interstitial nephritis with nephrotic syndrome have been recognised. Few cases of microangiopathic hemolytic anemias and hemophagocytic lymphohistiocytosis (HLH) have been reported with clinical response to therapeutic plasma exchange (TPE) and corticosteroids.
