Diagnosis and Management of Patients With α1-Antitrypsin (A1AT) Deficiency

Clinical Gastroenterology and Hepatology

Volumn 10, Issue 6, 2012, Pages 575-580

  Nelson, David R ^a   Teckman, Jeffrey ^b   Di Bisceglie, Adrian M ^b   Brenner, David A ^c  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

Autophagy; Diagnosis; Fibrosis; Hepatocellular Center; Therapy

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; INDOMETACIN;

ADULT DISEASE; AGE; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALCOHOL CONSUMPTION; ALPHA 1 ANTITRYPSIN DEFICIENCY; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; ASTHMA; AUTOPSY; CHILDHOOD DISEASE; CHOLANGIOGRAPHY; CLINICAL FEATURE; DISEASE ASSOCIATION; EMPHYSEMA; FAMILY HISTORY; GENDER; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; LAPAROTOMY; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER TRANSPLANTATION; NEWBORN HEPATITIS; NEWBORN JAUNDICE; NEWBORN SCREENING; OBESITY; OBSTRUCTIVE JAUNDICE; PATHOPHYSIOLOGY; PATIENT EDUCATION; REVIEW; SWEDEN;

ALPHA 1-ANTITRYPSIN DEFICIENCY; CARCINOMA, HEPATOCELLULAR; HISTOCYTOCHEMISTRY; HUMANS; IMMUNOHISTOCHEMISTRY; LIVER; LIVER CIRRHOSIS; MODELS, BIOLOGICAL; PULMONARY EMPHYSEMA;

EID: 84861337215     PISSN: 15423565     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cgh.2011.12.028     Document Type: Review

References (53)

1. Blank C.A., Brantly M. Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency. Ann Allergy 1994, 72:105-120.
2. Eriksson S., Carlson J., Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med 1986, 314:736-739.
3. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003, 168:818-900. American Thoracic Society, European Respiratory Society.
4. Elzouki A.N., Eriksson S. Risk of hepatobiliary disease in adults with severe alpha 1-antitrypsin deficiency (PiZZ): is chronic viral hepatitis B or C an additional risk factor for cirrhosis and hepatocellular carcinoma?. Eur J Gastroenterol Hepatol 1996, 8:989-994.
5. Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976, 294:1316-1321.
6. Bernspång E., Carlson J., Piitulainen E. The liver in 30-year-old individuals with alpha(1)-antitrypsin deficiency. Scand J Gastroenterol 2009, 44:1349-1355.
7. Clark V., Brantly M., Dhanasekaran R., et al. ALT abnormalities in adults with alpha-1 antitrypsin deficiency. Hepatology 2011, 54:5354.
8. Eriksson S. Alpha 1-antitrypsin deficiency and liver cirrhosis in adults: an analysis of 35 Swedish autopsied cases. Acta Med Scand 1987, 221:461-467.
9. Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, PiZ. Acta Med Scand 1978, 204:345-351.
10. Cox D.W., Smyth S. Risk for liver disease in adults with alpha 1-antitrypsin deficiency. Am J Med 1983, 74:221-227.
11. Hinds R., Hadchouel A., Shanmugham N.P., et al. Variable degree of liver involvement in siblings with PiZZ alpha-1-antitrypsin deficiency-related liver disease. J Pediatr Gastroenterol Nutr 2006, 43:136-138.
12. Pan S., Huang L., McPherson J., et al. Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. Hepatology 2009, 50:275-281.
13. Chappell S., Hadzic N., Stockley R., et al. A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease. Hepatology 2008, 47:127-132.
14. Wu Y., Whitman I., Molmenti E., et al. A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency. Proc Natl Acad Sci U S A 1994, 91:9014-9018.
15. Teckman J.H., Perlmutter D.H. The endoplasmic reticulum degradation pathway for mutant secretory proteins alpha1-antitrypsin Z and S is distinct from that for an unassembled membrane protein. J Biol Chem 1996, 271:13215-13220.
16. Bowlus C.L., Willner I., Zern M.A., et al. Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency. Clin Gastroenterol Hepatol 2005, 3:390-396.
17. Rudnick D.A., Shikapwashya O., Blomenkamp K., et al. Indomethacin increases liver damage in a murine model of liver injury from alpha-1-antitrypsin deficiency. Hepatology 2006, 44:976-982.
18. Stolk J., Seersholm N., Kalsheker N. Alpha1-antitrypsin deficiency: current perspective on research, diagnosis, and management. Int J Chron Obstruct Pulmon Dis 2006, 1:151-160.
19. Hodges J.R., Millward-Sadler G.H., Barbatis C., et al. Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis. N Engl J Med 1981, 304:557-560.
20. Carlson J., Eriksson S. Chronic "cryptogenic" liver disease and malignant hepatoma in intermediate alpha 1-antitrypsin deficiency identified by a Pi Z-specific monoclonal antibody. Scand J Gastroenterol 1985, 20:835-842.
21. Bell H., Schrumpf E., Fagerhol M.K. Heterozygous MZ alpha-1-antitrypsin deficiency in adults with chronic liver disease. Scand J Gastroenterol 1990, 25:788-792.
22. Graziadei I.W., Joseph J.J., Wiesner R.H., et al. Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency. Hepatology 1998, 28:1058-1063.
23. Fischer H.P., Ortiz-Pallardó M.E., Ko Y., et al. Chronic liver disease in heterozygous alpha1-antitrypsin deficiency PiZ. J Hepatol 2000, 33:883-892.
24. Regev A., Guaqueta C., Molina E.G., et al. Does the heterozygous state of alpha-1 antitrypsin deficiency have a role in chronic liver diseases?. interim results of a large case-control study. J Pediatr Gastroenterol Nutr 2006, 43(Suppl 1):S30-S35.
25. Luisetti M., Seersholm N. Alpha1-antitrypsin deficiency: 1-epidemiology of alpha1-antitrypsin deficiency. Thorax 2004, 59:164-169.
26. de Serres F.J., Blanco I., Fernández-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain. Clin Genet 2003, 63:490-509.
27. Silverman E.K., Sandhaus R.A. Clinical practice: alpha1-antitrypsin deficiency. N Engl J Med 2009, 360:2749-2757.
28. Stoller J.K., Sandhaus R.A., Turino G., et al. Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest 2005, 128:1989-1994.
29. Campbell E.J. Alpha1-antitrypsin deficiency: incidence and detection program. Respir Med 2000, 94(Suppl C):S18-S21.
30. Borawski J., Naumnik B., Myśliwiec M., et al. Serum alpha1-antitrypsin but not complement C3 and C4 predicts chronic inflammation in hemodialysis patients. Ren Fail 2003, 25:589-593.
31. Fairbanks K.D., Tavill A.S. Liver disease in alpha 1-antitrypsin deficiency: a review. Am J Gastroenterol 2008, 103:2136-2142.
32. Rachelefsky G., Hogarth D.K. Issues in the diagnosis of alpha 1-antitrypsin deficiency. J Allergy Clin Immunol 2008, 121:833-838.
33. Hogarth D.K., Rachelefsky G. Screening and familial testing of patients for alpha 1-antitrypsin deficiency. Chest 2008, 133:981-988.
34. Hashemi M., Alavian S.M., Ghavami S., et al. High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. Hepatol Res 2005, 33:292-297.
35. Teckman J.H., An J.K., Blomenkamp K., et al. Mitochondrial autophagy and injury in the liver in alpha 1-antitrypsin deficiency. Am J Physiol Gastrointest Liver Physiol 2004, 286:G851-G862.
36. Perlmutter D. Alpha-1 antitrypsin deficiency: importance of proteasomal and autophagic degradative pathways in disposal of liver disease-associated protein aggregates. Annu Rev Med 2011, 62:333-345.
37. Marciniak S.J., Lomas D.A. Alpha1-antitrypsin deficiency and autophagy. N Engl J Med 2011, 363:1863-1864.
38. Hidvegi T., Ewing M., Hale P. An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. Science 2010, 329:229-232.
39. Kaushal S., Annamali M., Blomenkamp K. Rapamycin reduces intrahepatic alpha-1-antitrypsin mutant Z protein polymers and liver injury in a mouse model. Exp Biol Med (Maywood) 2010, 235:700-709.
40. Kemmer N., Kaiser T., Zacharias V., et al. Alpha-1-antitrypsin deficiency: outcomes after liver transplantation. Transplant Proc 2008, 40:1492-1494.
41. Hood J.M., Koep L.J., Peters R.L., et al. Liver transplantation for advanced liver disease with alpha-1-antitrypsin deficiency. N Engl J Med 1980, 302:272-275.
42. Jain A.B., Patil V., Sheikh B. Effect of liver transplant on pulmonary functions in adult patients with alpha 1 antitrypsin deficiency: 7 cases. Exp Clin Transpl 2010, 8:4-8.
43. Eriksson S.G. Liver disease in alpha 1-antitrypsin deficiency: aspects of incidence and prognosis. Scand J Gastroenterol 1985, 20:907-911.
44. Hadzic N., Quaglia A., Mieli-Vergani G. Hepatocellular carcinoma in a 12-year-old child with PiZZ alpha1-antitrypsin deficiency. Hepatology 2006, 43:194.
45. Vergalla J., Jones E.A., Kew M.C. Alpha-1-antitrypsin deficiency and hepatocellular carcinoma: determination of Pi phenotypes using iso-electric focusing. S Afr Med J 1983, 64:950-951.
46. Rakela J., Goldschmiedt M., Ludwig J. Late manifestation of chronic liver disease in adults with alpha-1-antitrypsin deficiency. Dig Dis Sci 1987, 32:1358-1362.
47. Prachalias A.A., Kalife M., Francavilla R., et al. Liver transplantation for alpha-1-antitrypsin deficiency in children. Transpl Int 2000, 13:207-210.
48. Francalanci P., Santorelli F.M., Saccani S., et al. Z and Mmalton-1-antitrypsin deficiency-associated hepatocellular carcinoma: a genetic study. Liver Int 2009, 29:1593-1596.
49. Kok K.F., Wahab P.J., Houwen R.H., et al. Heterozygous alpha-I antitrypsin deficiency as a co-factor in the development of chronic liver disease: a review. Neth J Med 2007, 65:160-166.
50. Bruix J., Sherman M. management of hepatocellular carcinoma. Hepatology 2005, 42:1208-1236. Practice Guidelines Committee, American Association for the Study of Liver Diseases.
51. Rudnick D.A., Perlmutter D.H. Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease. Hepatology 2005, 42:514-521.
52. Reid C.L., Wiener G.J., Cox D.W., et al. Diffuse hepatocellular dysplasia and carcinoma associated with the Mmalton variant of alpha 1-antitrypsin. Gastroenterology 1987, 93:181-187.
53. Marcus N.Y., Brunt E.M., Blomenkamp K., et al. Characteristics of hepatocellular carcinoma in a murine model of alpha-1-antitrypsin deficiency. Hepatol Res 2010, 40:641-653.