Alpha 1 Antitrypsin Deficiency


Cross section of native lung with alpha-1 anti-trypsin deficiency

Alpha 1-antitrypsin deficiency (alpha 1-antitrypsin deficiency) is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, wheezing, rhonchi, and rales. Alpha 1-antitrypsin (A1AT) is produced in the liver, and one of its functions is to protect the lungs from the neutrophil elastase enzyme, which can disrupt connective tissue. Patients are usually labelled as having COPD without an underlying cause.

Let us consider an example

A 44 year old female, non smoker presents to the emergency room with the complaint of shortness of breath, DLCO is decreased showing emphysema. What is the most likely etiology?


In this case the female is a 44 year old middle aged lady, but emphysema is usually a disease of old age plus she also doesn’t have any risk factors associated i.e. non-smoker. So a case like this presenting to ER usually have an underlying etiology to which this is a secondary response which in this case is alpha 1-antitrypsin deficiency.

This disease is mostly misdiagnosed or ignored in emergency departments but yet it is considered that 1% of all COPD patients have this disease.

So next time do consider this in your mind when you see a COPD patient in your ER!