Synonyms: Alpha-1-proteinase inhibitor deficiency | Alpha1-antitrypsin deficiency
A rare hereditary metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form the disease can clinically manifest with chronic liver disorders (cirrhosis fibrosis) respiratory disorders (emphysema bronchiectasis) and rarely panniculitis or vasculitis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
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