Case Report: Late Presentation of Alpha-1 Antitrypsin Deficiency


Abstract Category: Innovation in Education

Purpose: Alpha-1-antitrypsin is a protease inhibitor that is synthesized by the liver and whose function is to degrade elastase. Deficiency of this enzyme results in excess destruction of elastin in the lung, leading to lung degradation. Accumulation of variant alpha-1-antitrypsin protein in hepatocytes causes liver disease. Alpha-1-antitrypsin deficiency (AATD) is a common but underdiagnosed hereditary disorder that results in emphysema and liver disease.

Methods: Alpha-1 antitrypsin automated immunoassay was used to quantify the enzyme serum concentration. It is the screening test for AATD assessment and involves a double-antibody fluorescence immunoassay for alpha-1 antitrypsin performed in duplicate. For confirmation, AATD genotyping (PCR protocol) with reflex to phenotyping (electrophoresis) was also ordered.


Case Description:

A 59-year-old never-smoker female presented to the ED due to an assault sustained by her ex-partner. During her hospitalization, she was also evaluated for elevated liver enzymes and shortness of breath. She explained that she had been experiencing progressive dyspnea on exertion and sporadic pleuritic pain for two years, as well as dry cough for five months. Work-up by her primary care physician and pulmonologist, included chest x-ray, chest CT, pulmonary function testing, but was not diagnostic. The patient also expressed her concerns about consistently elevated liver enzymes since age 54. She relayed a family history of liver cirrhosis which was fatal for her father (early 50’s) and her sister (age 48); a maternal uncle was also diagnosed (60’s). The patient presented with an oxygen saturation of 86% and digital clubbing. In the setting of acute trauma, her alpha-1 anti-trypsin level was 80. AATD genotype and phenotype testing were ordered.

Implication for Practice: AATD is often underdiagnosed. Affected individuals may experience symptoms for years prior to diagnosis. This case is an example of a late presentation of AATD in the sixth decade of life.

Publication Date


Presented At:

2018 West Kendall Baptist Hospital Scholarly Showcase

Content Type



Authors (FIU Herbert Wertheim College of Medicine Affiliates):

David M. Mendoza Medical Student

Jennifer Navarro Medical Student

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