For a brief and useful review of α1-antitrypsin (A1AT) deficiency: Clin Gastroenterol Hepatol 2012; 10: 575-80.

One of the pieces of information that is fairly new in the review: “the most promising strategy for treating liver disease in patients with A1AT deficiency is to decrease the accumulation of polymerized A1AT by stimulating its autophagy in hepatocytes.”  Both carbamazepine and rapamycin have been capable of this in transgenic mice; this has been associated with reduced liver fibrosis.

General recommendations from review:

• In patients with cirrhosis due to A1AT deficiency, screening for HCC is appropriate (Looking for trouble)
• Limit alcohol consumption and tobacco exposure
• Assure vaccination for hepatitis A & B
• Decompensated liver disease managed in standard fashion

Additional references:

• Tegretol may help treat/prevent fibrosis –study in Pittsburgh (at least 14yrs old, ZZ) –can call 855-428-2281 David Perlmutter
• -NEJM 2010; 363: 1863-64.  Autophagy in A1AT deficiency
• -Hepatology 2007; 45: 1313. Review of meeting on A1AT deficiency
• -JPGN 2006; 44: 99. High prevalence of alpha-1 heterozygosity in chronic liver disease. Multiple other polymorphisms may contribute to liver disease in some (heterozygous HFE gene, 1 mutation for Alagille may worsen EHBA [Hepatology 2002; 36: 904-12.], glutathione-S-transferase P1 polymorphism seen c CF liver disease
• -JPGN 2006; 43: 136-138. Variable degree of liver involvement in Sibs with PiZZ disease.
• -Clin Gastro & Hep 2005; 3: 390. factors associated c severe dz in adults include male gender and obesity.
• -JPGN 2003; 37: 347 (62A) NSAIDs may worsen liver dz.
• -Clin Perspect in Gastro 2002; 5 (1) : 40. (review)