Which pair of diseases is associated with alpha-1 antitrypsin deficiency?

• A. Juvenile hepatic cirrhosis and Pulmonary emphysema
• B. Diabetes mellitus and Hypertension
• C. Alzheimer's disease and Parkinson's disease
• D. Liver cancer and Pancreatitis

Answer: (A)

Alpha-1 antitrypsin (A1AT) deficiency removes a key protection against neutrophil elastase in the lungs and causes problems with the liver as well. This enzyme inhibitor is mainly made in the liver, and when A1AT is deficient or abnormal, elastase can destroy elastic fibers in the lungs, leading to emphysema, often at a younger age. At the same time, the abnormal A1AT protein can accumulate in liver cells, causing liver injury that can progress to cirrhosis in children or young people. So the combination of liver disease early in life (juvenile hepatic cirrhosis) and lung disease (pulmonary emphysema) is characteristic of A1AT deficiency.

The other pairings don’t reflect this pattern. Diabetes with hypertension, or neurodegenerative diseases like Alzheimer's and Parkinson's, or liver cancer with pancreatitis, are not typical manifestations linked to A1AT deficiency.