Alpha-1-Antitrypsin Deficiency

Alpha-1-antitrypsin deficiency is a quite interesting genetic inherited disease that is asymptomatic but can threaten the patient with many complications including lung and liver diseases.


The disease is caused by a genetic mutation that leads to the failure of formation of a substance known as alpha-1-antitrypsin. This substance is created in liver cells and it helps to reduce the activity of aggressive white blood cell substances and thus it prevents our immune system to damage the body tissues as a side-effect of immune system normal functions.


Dysfunctional molecules of alpha-1-antitrypsin can accumulate in liver cells and damage them. This can eventually lead to a chronic liver inflammation followed by cirrhosis development. Increased activity of defense substances produced by the white blood cells can damage various tissues, especially lung alveoli. Alveoli are sac-shaped structures separated by thin walls that enable the exchange of respiratory gases. These walls are destroyed by immune system substances causing lung emphysema and collapse of the alveoli. This process manifests with shortness of breath and unpleasant chronic cough. The condition may be further aggravated by bronchiectasis formation. The process is rapidly accelerated in smokers.


It is first necessary to determine the patient's difficulties and perform a physical examination. The finding is relatively poor as well as can be relatively normal chest X-ray. It is important to test the lung function using spirometry. In addition, we can find increased liver tests in obtained blood samples. Simultaneous liver and lung disorder in a young person is suspicious of the alpha-1-antitrypsin deficiency. The confirmation of the diagnosis may be done by a special test that evaluates the serum level of alpha-1-antitrypsin.


The missing alpha-1-antitrypsin can be administered intravenously in the form of a concentrate prepared from human blood plasma. The supportive pharmacotherapy focuses on bronchial dilators. Total ban of smoking is essential as it significantly improves the prognosis. Every bacterial respiratory infection must be cautiously treated by antibiotics.

Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Sources: basic text sources