AMBOSS 200 High Yield (HY) Concepts For Step 2 Practice Test

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Alpha-1 antitrypsin deficiency is associated with increased risk of which liver conditions?
Correct Answer:
Hepatocellular carcinoma and cirrhosis
Explanation:
Chronic liver injury from alpha-1 antitrypsin deficiency leads to both scarring (cirrhosis) and an increased risk of liver cancer (hepatocellular carcinoma). The deficiency causes misfolded A1AT to accumulate in hepatocytes, provoking ongoing inflammation and fibrosis that can progress to cirrhosis. Once cirrhosis develops, the risk of hepatocellular carcinoma rises due to the chronic regenerative drive and genetic instability in the cirrhotic liver. Therefore, this condition is associated with both cirrhosis and hepatocellular carcinoma, with the cancer risk being greatest when cirrhosis is present.

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