Alpha 1-antitrypsin deficiency, also known as AAT deficiency or A1AD, is a genetic disorder that affects the production of a protein called alpha 1-antitrypsin. This protein is primarily produced in the liver and plays a crucial role in protecting the lungs from damage caused by enzymes released by white blood cells.
Individuals with alpha 1-antitrypsin deficiency have lower levels of this protein, which can lead to various respiratory and liver problems. The severity of the condition can vary widely, with some individuals experiencing mild symptoms while others may develop severe lung disease or liver cirrhosis.
There are several synonyms used to refer to alpha 1-antitrypsin deficiency:
It is important for individuals with alpha 1-antitrypsin deficiency to receive proper medical care and management. Treatment options may include medications, lung therapies, and in some cases, liver transplantation. Early diagnosis and intervention can help improve outcomes and quality of life for individuals affected by this genetic disorder.