Conditions / Genetic
alpha 1-antitrypsin deficiency
info · Genetic · ICD-10: E88.01
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cell
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
Signs and symptoms
- Gastric varix
- Increased sputum production
- Bronchiectasis
- Cirrhosis
- Cough
- Decreased circulating alpha-1-antitrypsin concentration
- Splenomegaly
- Hemoptysis
- Panacinar emphysema
- Intrahepatic inclusion bodies
Medications that may treat it
Also known as: AAT deficiency