What is the common presentation of Alpha-1 antitrypsin deficiency?

classically causes emphysema in patients who are young and non-smokers

What is the inheritance pattern of Alpha-1 antitrypsin deficiency?

autosomal recessive / co-dominant fashion

What are the main clinical features of Alpha-1 antitrypsin deficiency?

• lungs: panacinar emphysema, most marked in lower lobes
• liver: cirrhosis and hepatocellular carcinoma in adults, cholestasis in children

What is the management of Alpha-1 antitrypsin deficiency?

• no smoking
• supportive: bronchodilators, physiotherapy
• intravenous alpha1-antitrypsin protein concentrates
• surgery: lung volume reduction surgery, lung transplantation

What is the pathophysiology of Alpha-1 antitrypsin deficiency?

lack of a protease inhibitor (Pi) normally produced by the liver, that protects cells from enzymes such as neutrophil elastase