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Alpha-1 antitrypsin deficiency
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Alpha-1 antitrypsin deficiency is an inherited disease. Alpha-1 antitrypsin is a protein that helps protect the body from neutrophil elastase, an enzyme that white blood cells release during an infection and that cuts through tissue. In this disease the protein is produced in an altered form.
In the lung, the result is that the enzyme runs unchecked. The alveoli, the tiny sacs where air and blood exchange gases, are gradually destroyed by elastase. The brake on a tissue-cutting enzyme is missing, and the cutting goes on inside the lung.
In the liver the problem is different and happens by another route. The abnormal protein misfolds, and a misfolded protein tends to stick to itself: it forms polymers that end up trapped as inclusions inside the hepatocytes, the liver cells. It is the same protein causing two different problems in two different organs.
In brief
Alpha-1 antitrypsin deficiency is inherited and alters production of that protein, which helps protect the body from neutrophil elastase.
Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys the alveoli of the lung.
The brake on a tissue-cutting enzyme is missing, and the cutting goes on inside the lung.
The same protein affects the liver: when it misfolds, it forms abnormal polymers that build up as inclusions inside hepatocytes.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingAlpha-1 Antitrypsin Deficiency, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
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