AAT deficiency can cause hepatic dysfunction, chronic obstructive lung disease, panniculitis, and C-ANCA-positive vasculitis. Expressions however vary within and between families, but smoking is a major factor in accelerating the development of COPD.
Emphysema is extremely rare in children with AATD. Contrary, AATD-associated liver disease may exhibit neonatal cholestasis or unexplained liver disease. Later, it can manifest as cirrhosis and fibrosis in adults, thereby increasing the risk for hepatocellular carcinoma.
SERPINA1