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Alpha-1 Antitrypsin Deficiency Related Chronic Obstructive Pulmonary Disease (COPD) UPDATED 2023

Alpha-1 antitrypsin deficiency (AATD), a genetic disorder caused by mutations within the SERPINA1 gene. It increases the risk for liver disease, early emphysema and chronic obstructive pulmonary disease in both never- and active-smokers.

Description

Most healthcare professionals working with lung disease patients are aware that an Alpha-1 Antitrypsin Deficiency (AATD) can cause Chronic Obstructive Pulmonary Disease (COPD) and that AATD results in serious, chronic lung and/or liver disease at various ages in life (children and adults).
In other words, AAT Deficiency is not a disease. It is viewed as a condition or a disorder that increases the risk of developing disease, particularly of the lungs and the liver. Thus, “genetically acquired” COPD is normally called Alpha-1 Antitrypsin Deficiency related Chronic Obstructive Pulmonary Disease (COPD).
Clinically it is an under-recognized genetic disorder. AAT Deficiency is normally diagnosed by a blood test; but less than 10% of those people living with this deficiency have been properly diagnosed. It is most often “misdiagnosed” as asthma or smoking-related COPD.

This topic will discuss the facts about AAT Deficiency, the pathophysiologic changes and with this knowledge encourage the participant to become an advocate for earlier and more accurate diagnosis.

Objectives

Define Alpha-1 Antitrypsin Deficiency (Alpha-1).
Discuss the etiology and pathophysiology of AAT Deficiency.
Review treatment and prognosis for AAT Deficiency.