Abstract
SESSION TITLE: Medical Student/Resident Genetic and Developmental Disorders Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is known to affect the lungs and liver by causing the early development of emphysema and liver disease. We present a case of a non-smoker who developed emphysema in her early 40s. CASE PRESENTATION: 42 year old non-smoking female with a past medical history of multiple spontaneous pneumothoraces presented to her primary care physician (PCP) with complaints of right-sided chest pain and was found to have decreased breath sounds on the right side. She was sent for a 2-view chest x-ray and d-dimer. The posteroanterior and lateral chest x-ray showed a right side pneumothorax and she was instructed to go to the emergency department (ED) for chest tube placement. Examination in the ED revealed normal vital signs and no breath sounds on the right chest. D-dimer was unremarkable. She was seen by pulmonology who recommended further imaging. CT chest with contrast demonstrated small subpleural blebs along the medial aspect of the right lung apex, the suspected source of the spontaneous pneumothorax, and a lobulated lesion in the posterior segment of the right lobe of the liver. Given the liver findings, a MRI abdomen was done showing a mildly complex, septated cyst in the posterior right hepatic lobe measuring up to 4.4cm without enhancement consistent with a biliary cystadenoma. Serial chest x-rays were done to monitor the pneumothorax regression. The chest tube was removed three days later after absence of pneumothorax on water seal. She was discharged with a referral to thoracic surgery and had an office visit two weeks later for right-sided robotic-assisted thoracoscopic surgery with wedge excision of right apical bleb and mechanical pleurodesis. Pathology from the bleb tissue showed subpleural fibrosis and emphysematous change. AATD testing sent during her hospitalization was significant for alpha-1 antitrypsin (AAT) phenotype of SS, with an incidence of 0.1% and an AAT level of 105 mg/dL, the lower end of the normal range for her age. Pulmonary function testing did not reveal any obstructive findings. DISCUSSION: Our case demonstrates a rare presentation of the development emphysema in a non-smoker found to have the SS phenotype with low normal level of alpha-1 antitrypsin. This patient developed emphysema earlier than expected given the phenotype of AATD. Although our patient did not have classic liver manifestations, she was found to have a biliary cystadenoma. Patients with the SS phenotype are at risk to develop liver disease and early manifestations of emphysema; however they have a minimally increased risk of developing COPD, as the SS allele is related to a mild decrease in alpha-1 antitrypsin levels. CONCLUSIONS: Given the rarity of the SS phenotype, more research is needed in order to truly determine the incidence of developing lung and/or liver disease. It will be vital to help prognosticate and treat patients with alpha-1 antitrypsin deficiency. Reference #1: Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. Orphanet J Rare Dis. 2008;3:16. Reference #2: Parr DG, Stoel BC, Stolk J, Stockley RA. Pattern of Emphysema Distribution in alpha1-Antitrypsin Deficiency Influences Lung Function Impairment. Am J Respir Crit Care Med. 2004;170:1172-8. Reference #3: Kelly E, Greene CM, Carroll TP, McElvaney NG, O’Neill SJ. Alpha-1 antitrypsin deficiency. Respir Med. 2010;104:763-72. DISCLOSURES: No relevant relationships by Patrick Koo, source=Web Response No relevant relationships by Jetina Okereke, source=Web Response
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