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Date of Award
Spring 2023
Degree Name
Master of Medical Science (Physician Assistant)
Department
Physician Assistant; College of Health Sciences
First Advisor
Elizabeth Masten
Abstract
Alpha-1 antitrypsin deficiency (AATD) is a prevalent inherited disease that is often underdiagnosed despite its high incidence rate compared to other well-known genetic disorders. This lack of proper diagnosis not only hinders patients from receiving appropriate treatment but also has a hidden impact on their familial offspring, who may unknowingly carry the same disease. This paper aims to shed light on the issue of underdiagnosis of AATD and provide concise insights into the measures clinicians can take to improve the diagnosis and management of this relatively common yet often overlooked condition.
Recommended Citation
Ross, Greg, "Alpha 1 Antitrypsin Deficiency: Insights into the Clinical Heterogeneity and Therapeutic Opportunities" (2023). Capstone Showcase. 17.
https://scholarworks.arcadia.edu/showcase/2023/pa/17
Alpha 1 Antitrypsin Deficiency: Insights into the Clinical Heterogeneity and Therapeutic Opportunities
Alpha-1 antitrypsin deficiency (AATD) is a prevalent inherited disease that is often underdiagnosed despite its high incidence rate compared to other well-known genetic disorders. This lack of proper diagnosis not only hinders patients from receiving appropriate treatment but also has a hidden impact on their familial offspring, who may unknowingly carry the same disease. This paper aims to shed light on the issue of underdiagnosis of AATD and provide concise insights into the measures clinicians can take to improve the diagnosis and management of this relatively common yet often overlooked condition.