Retrospective single-center study of alpha-1 antitrypsin deficiency patients from rural appalachia

SESSION TITLE: Lung Pathology Posters SESSION TYPE: Original Investigation Posters PRESENTED ON: 10/10/2023 12:00 pm - 12:45 pm PURPOSE: Alpha-1 antitrypsin (AAT) deficiency is inherited in an autosomal co-dominant fashion, which means two different alleles are expressed, one from each parent. The most common gene involved in AAT is SERPINA 1. AAT is a protease inhibitor of elastase, a proteolytic enzyme. The homozygous and heterozygous genotypes involved with AAT deficiency are MS, MF, MZ, SS, SZ, ZZ, and Null. The genotypes determine the risk of developing emphysema. Most commonly, AAT deficiency affects the lungs and liver and rarely the skin. METHODS: We are describing a descriptive study that was conducted on 56 patients with AAT deficiency. All 56 patients are from a one pulmonary clinic. Electronic Health Record (EHR) data extracted from Appalachian Regional Healthcare (ARH) clinic allocated in rural Eastern Kentucky. We extracted data for 100 patient encounters with AAT deficiency from EHR. The patient encounters with missing variables were excluded, and we conducted the preliminary analysis on the remaining 56 patient encounters. RESULTS: Data from 56 male and female patients were included. The clinical characteristics studied were age, BMI, smoking, lung disease, pulmonary function, genotype and alpha-1 level and were stratified by sex. 7.4% of males and 6.9% of females <40 years have AAT deficiency. 40.7% of males and 17.2% of females >70 years has AAT deficiency. 3.7% of males and 13.8% of females <18.5 BMI have AAT deficiency. 51.9% of males and 41.4% of females >30 BMI has AAT deficiency. The percentage of smokers with AAT deficiency is high compared to non-smokers. The percentage of females with AAT deficiency have co-existing asthma, COVID, pneumothorax, and obstructive sleep apnea more than males. The percentage of males with AAT deficiency have co-existing black lung, coronary artery disease, and chronic obstructive pulmonary disease more than females. 55.6% of males and 65.5% of females with AAT deficiency have the MS genotype. 44.4% of males and 34.5% of females with AAT deficiency have the MZ phenotype. Alpha-1 level is high in males compared to females by 7.4%. 74.1% of males and 96.6% of females with AAT deficiency have normal alpha-1 level. CONCLUSIONS: Based on the study results, elderly and high BMI patients have AAT deficiency compared to younger and low BMI patients. However, this descriptive study only describes the association between the patient characteristics and AAT deficiency but not the causation. CLINICAL IMPLICATIONS: Our initial idea was to conduct a multivariate analysis to see which clinical characteristics have an impact on AAT, but unfortunately, we could not do one because of the small sample size. DISCLOSURES: No relevant relationships by Regina Chan No relevant relationships by Subramanya shyam Ganti No relevant relationships by Derek Jernigan No relevant relationships by Sandhya Kolagatla No relevant relationships by nagabhishek moka No relevant relationships by Tara Rahmlow No relevant relationships by Arulmani Thiyagarajan No relevant relationships by Avinash Vangara