Heterozygous alpha-I antitrypsin deficiency as a co-factor in the development of chronic liver disease: A review

Netherlands Journal of Medicine

Volumn 65, Issue 5, 2007, Pages 160-166

  Kok, Karin F ^a   Wahab, P J ^a   Houwen, R H J ^b   Drenth, J P H ^c   de Man, R A ^d   van Hoek, B ^e   Meijer, J W R ^a   Willekens, F L A ^a   de Vries, R A ^a  

^a RIJNSTATE HOSPITAL   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Alpha I antitrypsin deficiency; Hepatocellular carcinoma; Heterozygosity; Liver disease

Indexed keywords

ACUTE PHASE PROTEIN; ALPHA 1 ANTITRYPSIN; PARVOVIRUS VECTOR; PROTEINASE;

ALPHA 1 ANTITRYPSIN DEFICIENCY; CHRONIC LIVER DISEASE; DISEASE COURSE; ENZYME INHIBITION; GENE MUTATION; GENE THERAPY; GENETIC DISORDER; HEPATITIS C; HEPATITIS C VIRUS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIVER BIOPSY; LIVER CELL; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER FAILURE; LIVER INJURY; LIVER TRANSPLANTATION; LUNG DISEASE; NEWBORN HEPATITIS; PATHOPHYSIOLOGY; PHENOTYPE; PREVALENCE; PROTEIN BLOOD LEVEL; PROTEIN POLYMERIZATION; PROTEIN SYNTHESIS; REVIEW; SUBSTITUTION THERAPY; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

ALPHA 1-ANTITRYPSIN DEFICIENCY; CARCINOMA, HEPATOCELLULAR; CHRONIC DISEASE; HEPATITIS C; HETEROZYGOTE; HUMANS; LIVER DISEASES; LIVER NEOPLASMS;

EID: 34547440421     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (67)

1. Teckmann JH, Qu D, Perlmutter DH. Molecular pathogenesis of liver disease in α-antitrypsin deficiency. Hepatology 1996;24:1504-16.
2. 1-antitrypsin deficiency. Respir Med 2000;94:S3-S6.
3. 1-antitrypsin. J Biol Chem 1999;274:9548-55.
4. 1-antitrypsin accumulation in the liver. Nature 1992; 357:605-7.
5. 1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004; 59:259-64.
6. 1-antitrypsin deficiency - a model for conformational diseases. N Engl J Med 2002;346:45-53.
7. 1-antitrypsin deficiency. Lancet 2005;365:2225-36.
8. 1-antitrypsin in cancer development and progression. Lancet Oncol 2004;5:182-90.
9. Perlmutter DH. Pathogenesis of chronic liver injury and hepatocellular carcinoma in alpha-1-antitrypsin deficiency. Resp Res 2006;60:233-8.
10. 1-antitrypsin deficiency. Thorax 2004; 59:164.9.
11. 1-antitrypsin deficiency detected by screening of 200,000 infants. N Eng J Med 1976;294:1316-21.
12. 1-antitrypsin deficiency in the Netherlands. Hum Genet 1980;53:409-13.
13. Serres FJ de, 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.
14. Serres FJ de, Blanco I, Fernández-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand, and the United States of America. Clin Genet 2003;64:382-97.
15. 1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 2002;122:1818-29.
16. 1-antitrypsin deficiency (PiZZ): features of liver involvement in childhood. Acta Paediatr 1994;393:13-7.
17. 1-antitrypsin deficiency. J Pediatr 1978;92:1006-10.
18. Cottrall K, Cook PJL. Neonatal hepatitis syndrome and alpha-1-antitrypsin deficiency: an epidemiological study in south-east England. Postgrad Med 1974;50:376-80.
19. 1-antitrypsin deficiency. Hepatology 1988;8:307-10.
20. 1-antitrypsin deficiency. Hepatology 1995;22:514-7.
21. 1-Antitrypsin deficiency in 26-year-old subjects: lung, liver, and protease/protease inhibitor studies. Chest 2005;128:2076-81.
22. Pittschieler K. Liver disease and heterozygous alpha-1-antitrypsin deficiency. Acta Paediatr Scan 1991;80:323-7.
23. Pittschieler K. Liver involvement in alpha1-antitrypsin deficient phenotypes PiSZ and PiMZ. Acta Paediatr 2002;91:239-40.
24. Rakela J, Goldschmiedt M, Ludwig J. Late manifestation of chronic liver disease in adults with alpha-1 antitrypsin deficiency. Dig Dis Sci 1987;32:1358-62.
25. 1-Antitrypsin deficiency and liver cirrhosis in adults. Acta Med Scan 1987;221:461-7.
26. Bowlus CL, Willner I, Zern MA, et al. Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency. Clin Gastroenterol Hepatol 2005;3:390-6.
27. Von Schönfeld J, Breuer N, Zotz R, et al. Liver function in patients with pulmonary emphysema due to severe alpha-1-antitrypsin deficiency (PiZZ). Digestion 1996;57:165-9.
28. 1-antitrypsin deficiency (Pi Z). Scand J Gastroent 1977;12:543-6.
29. 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis. N Engl J Med 1981; 304:557-60.
30. 1-antitrypsin phenotypes in patients with end stage liver disease. Am J Gastroenterol 1997;92:602-7.
31. 1-antitrypsin deficiency. Hepatology 1998;28:1058-63.
32. 1-antitrypsin deficiency PiZ. J Hepatol 2000;33:883-92.
33. Kok KF, Wahab PJ, Vries RA. Heterozygosity for alpha1-antitrypsin deficiency as a cofactor in the development of chronic liver disease. Ned Tijdschr Geneeskd 2005;149:2057-61.
34. Propst T, Propst A, Dietze O, Judmaier G, Braunsteiner H, Vogel W. High prevalence of viral infection in adults with homozygous and heterozygous alpha1-antitrypsin deficiency and chronic liver disease. Ann Int Med 1992;117:641-5.
35. Propst A, Propst T, Öfner D, Feichtinger H, Judmaier G, Vogel W. Prognosis and life expectancy in alpha-1-antitrypsin deficiency and chronic liver disease. Scan J Gastroenterol 1995;30:1108-12.
36. Serfaty L, Chazouillères O, Poujol-Robert A, et al. Risk factors for cirrhosis in patients with chronic hepatitis C virus infection: results of a case-control study. Hepatology 1997;26:776-9.
37. Elzouki AN, Verbaan H, Lindgren S, Widell A, Carlson J, Erikssonn S. Serine protease inhibitors in patients with chronic viral hepatitis. Hepatol 1997;27:42-8.
38. 1-antitrypsin phenotype PiMZ increase the risk of fibrosis in liver disease due to hepatitis C virus infection? Eur J Gastroenterol Hepatol 2006;18:521-3.
39. 1-antitrypsin deposition in primary hepatic carcinoma. Arch Pathol Lab Med 1976;100:232-6.
40. Reintoft I, Hägerstrand IE. Does the Z gene variant of alpha-1-antitrypsin predispose to hepatic cancer? Hum Pathol 1979;10:419-24.
41. 1-antitrypsin deficiency. N Engl J Med 1986; 314:736-9.
42. 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;8:989-94.
43. Zhou H, Ortiz-Pallardó ME, Ko Y, Fischer HP. Is heterozygous alpha-1-antitrypsin deficiency type PiZ a risk factor for primary liver cell carcinoma? Cancer 2000;88:2668-76.
44. Zhou H, Fischer HP. Liver carcinoma in PiZ alpha-1-antitrypsin deficiency. Am J Pathol 1998;22:742-8.
45. Propst T, Propst A, Dietze O, Judmaier G, Braunsteiner H, Vogel W. Prevalence of hepatocellular carcinoma in alpha-1-antitrypsin deficiency. Hepatol 1994;21:1006-11.
46. 1-antitrypsin deficiency phenotypes among patients with hepatocellular and bile duct carcinoma. Hepatology 1992;15:407-10.
47. Govindarajan S, Ashcaval M, Peters RL. α-1-Antitrypsin deficiency phenotypes in hepatocellular carcinoma. Hepatology 1981;1:628:31.
48. 1-antitrypsin levels and phenotypes and hepatitis B serology in liver cancer. Br J Cancer 1984;49:567-70.
49. 1-antitrypsin deficiency-associated panniculitis: case report and review of the literature. Pediatr Dermatol 1991;8:296-9.
50. 1-antitrypsin administration and liver transplantation. Transplantation 1997;63:480-2.
51. Phelps RG, Shoji T. Update on panniculitis. Mt Sinai J Med 2001;68:262-7.
52. 1-Antitrypsin deficiency panniculitis. Cutis 2003; 71:205-9.
53. 1-antitrypsin deficiency treated successfully with human purified enzyme (Prolastin®). Br J Dermatol 2002;147:1258-61.
54. 1-antitrypsin deficiency (PiZ homozygosity) with membranoproleferative glomerulonephritis and nephrotic syndrome, reversible after orthotopic liver transplantation. J Hepatol 1997;26:1403-7.
55. 1-antitrypsin deficiency and intracranial aneurysms. Lancet 1994;343:1037.
56. 1-antitrypsin in patients with genetic haemochromatosis. Gut 1995;36:922-6.
57. 1-antitrypsin deficiency and genetic hemochromatosis. Hepatology 1992;16:145-8.
58. 1-antitrypsin deficiency. Hepatology 1996;24:1161-4.
59. Eriksson S, Lindmark B, Olsson S. Lack of association between hemochromatosis and α-antitrypsin deficiency. Acta Med Scand 1986;219:291-4.
60. Walker-Smith J, Andrews J. Alpha-1-antitrypsin, autism, and coeliac disease. Lancet 1972;2:883-4.
61. 1-antitrypsin deficiency have any role in the development of celiac sprue after gastric operations? J Clin Castroenterol 1986;8:559-61.
62. 1-Antitrypsin deficiency and celiac disease in Spain. Gut 1980;21:948-50.
63. Burrows JAJ, Willis LK, Perlmutter DH. Chemical chaperones mediate increased secretion of mutant α1-antitrypsin (α1-AT) Z: a potential pharmacological strategy for prevention of liver injury and emphysema in α1-AT deficiency. Proc Natl Acad Sci USA 2000; 97:1796-801.
64. 1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest 2002;110:1585-90.
65. Stecenko AA, Brigham KL. Gene therapy progress and prospects: alpha-1 antitrypsin. Gene Therapy 2003;10:95-9.
66. Vennarecci G, Gunson BK, Ismail T, et al. Transplantation for end stage liver disease related to alpha 1 antitrypsin. Transplantation 1996;61:1488-95.
67. 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.