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Pulmonology148 papers

Alpha-1-antitrypsin deficiency

Last edited: 4/14/2026

Overview

Alpha-1-antitrypsin (AAT) deficiency is an inherited disorder characterized by reduced levels or dysfunctional forms of AAT, leading to increased susceptibility to lung diseases such as emphysema and bronchiectasis, as well as liver disease including fibrosis and cirrhosis 123.

Diagnosis

  • Genetic Testing: Identify specific AAT deficiency genotypes (e.g., PiZZ, PiSZ) 315.
  • Serum AAT Levels: Measure AAT concentration to confirm deficiency 34.
  • Imaging: CT scans can assess lung damage and fibrosis, potentially replacing lung function tests 8.
  • Liver Function Tests: Evaluate for signs of liver disease, including fibrosis markers 1.
  • Liver Biopsy: For definitive assessment of liver pathology in symptomatic patients 10.

    • Management

  • Augmentation Therapy: Intravenous AAT augmentation for severe lung disease (specific dosing not detailed in abstracts) 7.
  • Supportive Care: Smoking cessation, pulmonary rehabilitation, and oxygen therapy as needed 2.
  • Liver Disease Management: Regular monitoring and treatment of complications (e.g., cirrhosis, portal hypertension) 10.
  • Gene Therapy: Emerging treatment option for emphysema, though not yet widely established 11.

    • Special Populations

  • Pregnancy: Careful monitoring required; potential risks include pneumothorax 17.
  • Pediatrics: Early diagnosis crucial due to risk of liver disease and neonatal cholestasis 510.
  • Elderly: Increased risk of advanced lung and liver complications; regular surveillance recommended 2728.
  • Comorbidities: Consideration of additional conditions like pancreatitis (e.g., PiSZ phenotype) 13.

    • Key Recommendations

  • Genetic Testing and Serum AAT Levels for Diagnosis: Essential for confirming AAT deficiency 34.
  • Regular Monitoring of Liver Function: Especially important in patients with evidence of liver involvement 110.
  • Consider Augmentation Therapy for Severe Lung Disease: Based on clinical severity and genotype 7.
  • Smoking Cessation and Pulmonary Rehabilitation: Recommended to mitigate lung disease progression 2.
  • Prenatal and Postnatal Surveillance in Pediatric Patients: Early detection and management of liver and lung issues 510.
    • (Evidence: Moderate)

    References

    1 Huang DQ, Chan KE, Tan C, Zeng RW, Koh B, Ong EYH et al.. Meta-analysis: Prevalence of significant or advanced fibrosis in adults with alpha-1-antitrypsin deficiency. Alimentary pharmacology & therapeutics 2023. link 2 Patrucco F, Venezia L, Gavelli F, Pellicano R, Solidoro P. Alpha1-antitrypsin deficiency: what's new after European Respiratory Society Statement. Panminerva medica 2018. link 3 Henao MP, Craig TJ. Understanding alpha-1 antitrypsin deficiency: A review with an allergist's outlook. Allergy and asthma proceedings 2017. link 4 Craig TJ. Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective. The journal of allergy and clinical immunology. In practice 2015. link 5 Radlović N, Leković Z, Radlović V, Simić D, Topić A, Ristić D et al.. Alpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis. Srpski arhiv za celokupno lekarstvo 2014. link 6 Schmechel DE. Art, alpha-1-antitrypsin polymorphisms and intense creative energy: blessing or curse?. Neurotoxicology 2007. link 7 Stolk J. Alpha-1-antitrypsin augmentation treatment: does one size fit all?. Thorax 2006. link 8 Shaker SB, Stavngaard T, Stolk J, Stoel B, Dirksen A. Alpha1-antitrypsin deficiency. 7: Computed tomographic imaging in alpha1-antitrypsin deficiency. Thorax 2004. link 9 Eriksson S. A 30-year perspective on alpha 1-antitrypsin deficiency. Chest 1996. link 10 Perlmutter DH. Clinical manifestations of alpha 1-antitrypsin deficiency. Gastroenterology clinics of North America 1995. link 11 Geddes DM, Beckles MA. Gene therapy for alpha 1-antitrypsin deficiency. Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace 1995. link 12 Clark JA, Gross TP. Pain and cyanosis associated with alpha 1-proteinase inhibitor. The American journal of medicine 1992. link90780-f) 13 Edmunds SE, Wilkinson ML. Alpha 1-antitrypsin deficiency and pancreatitis in a juvenile. Australian and New Zealand journal of medicine 1991. link 14 Apprill M, North ML, Mirhom R, Weitzenblum E. Alpha-1-antitrypsin deficiency in a large sibship. Respiration; international review of thoracic diseases 1990. link 15 Cox DW, Billingsley GD. Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes. American journal of human genetics 1989. link 16 Baumstark JS. A zone electrophoretic-isoelectric focusing study on the inactivation of human alpha 1-antitrypsin by elastase. Applied and theoretical electrophoresis : the official journal of the International Electrophoresis Society 1988. link 17 Atkinson AR. Pregnancy and alpha-1 antitrypsin deficiency. Postgraduate medical journal 1987. link 18 Fraeyman NH, de Smet FH, van de Velde EJ. A study of the heterogeneity of human alpha 1-acid glycoprotein with monoclonal antibodies. Hybridoma 1987. link 19 Nathoo SA, Finlay TH. Immunological and chemical properties of mouse alpha 1-protease inhibitors. Archives of biochemistry and biophysics 1986. link90460-1) 20 Gross V, Steube K, Tran-Thi TA, McDowell W, Schwarz RT, Decker K et al.. Secretion of high-mannose-type alpha 1-proteinase inhibitor and alpha 1-acid glycoprotein by primary cultures of rat hepatocytes in the presence of the mannosidase I inhibitor 1-deoxymannojirimycin. European journal of biochemistry 1985. link 21 Lamontagne LR, Stadnyk AW, Gauldie J. Synthesis of alpha 1-protease inhibitor by resident and activated mouse alveolar macrophages. The American review of respiratory disease 1985. link 22 Chandra T, Stackhouse R, Kidd VJ, Robson KJ, Woo SL. Sequence homology between human alpha 1-antichymotrypsin, alpha 1-antitrypsin, and antithrombin III. Biochemistry 1983. link 23 Clausen PP. Immunohistochemical demonstration of alpha-1-antitrypsin in liver tissue. A methodological investigation. Acta pathologica et microbiologica Scandinavica. Section A, Pathology 1980. link 24 Pellegrini A, von Fellenberg R. Fractionation and partial characterization of alpha-1-protease isoinhibitors of horse. Biochimica et biophysica acta 1980. link90152-7) 25 Coughlin GP, van Deth AG, Ey GT, Grant AK. Alpha1-antitrypsin deficiency--a literature review and a case report of a patient with chronic obstructive airways disease and cirrhosis. Australian and New Zealand journal of medicine 1977. link 26 Gautier M, Martin JP, Polini G. In vitro synthesis of alpha-1-antitrypsin in long term monolayer human liver cell cultures. Biomedicine / [publiee pour l'A.A.I.C.I.G.] 1977. link 27 Donlan CJ, Ross DG, Golembieski M, Scutero JV. Pulmonary emphysema and liver disease. Occurrence in an alpha-antitrypsin-deficient adult. JAMA 1975. link 28 Greenwald AJ, Johnson DS, Oskvig RM, Aschenbrener CA, Randa DC. Alpha-1-antitrypsin deficiency, emphysema, cirrhosis, and intestinal mucosal atrophy. JAMA 1975. link 29 Schleissner LA, Cohen AH. Alpha1-antitrypsin deficiency and hepatic carcinoma. The American review of respiratory disease 1975. link 30 Martin JP. Further examples confirming the existence of Pi null (Pi-). Pathologie-biologie 1975. link 31 Christen H, Bau J, Halsband H. Hereditary alpha1--antitrypsin deficiency associated with congenital extrahepatic bile duct hypoplasia. Klinische Wochenschrift 1975. link 32 Fagerhol MK. Alpha-1-antitrypsin deficiency in pulmonary and liver degeneration. Birth defects original article series 1974. link

    Original source

    1. [1]
      Meta-analysis: Prevalence of significant or advanced fibrosis in adults with alpha-1-antitrypsin deficiency. — Huang DQ, Chan KE, Tan C, Zeng RW, Koh B, Ong EYH et al. Alimentary pharmacology & therapeutics (2023)
    2. [2]
      Alpha1-antitrypsin deficiency: what's new after European Respiratory Society Statement. — Patrucco F, Venezia L, Gavelli F, Pellicano R, Solidoro P Panminerva medica (2018)
    3. [3]
      Understanding alpha-1 antitrypsin deficiency: A review with an allergist's outlook. — Henao MP, Craig TJ Allergy and asthma proceedings (2017)
    4. [4]
      Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective. — Craig TJ The journal of allergy and clinical immunology. In practice (2015)
    5. [5]
      Alpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis. — Radlović N, Leković Z, Radlović V, Simić D, Topić A, Ristić D et al. Srpski arhiv za celokupno lekarstvo (2014)
    6. [6]
      Art, alpha-1-antitrypsin polymorphisms and intense creative energy: blessing or curse? — Schmechel DE Neurotoxicology (2007)
    7. [7]
      Alpha-1-antitrypsin augmentation treatment: does one size fit all? — Stolk J Thorax (2006)
    8. [8]
      Alpha1-antitrypsin deficiency. 7: Computed tomographic imaging in alpha1-antitrypsin deficiency. — Shaker SB, Stavngaard T, Stolk J, Stoel B, Dirksen A Thorax (2004)
    9. [9]
      A 30-year perspective on alpha 1-antitrypsin deficiency. — Eriksson S Chest (1996)
    10. [10]
      Clinical manifestations of alpha 1-antitrypsin deficiency. — Perlmutter DH Gastroenterology clinics of North America (1995)
    11. [11]
      Gene therapy for alpha 1-antitrypsin deficiency. — Geddes DM, Beckles MA Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace (1995)
    12. [12]
      Pain and cyanosis associated with alpha 1-proteinase inhibitor. — Clark JA, Gross TP The American journal of medicine (1992)
    13. [13]
      Alpha 1-antitrypsin deficiency and pancreatitis in a juvenile. — Edmunds SE, Wilkinson ML Australian and New Zealand journal of medicine (1991)
    14. [14]
      Alpha-1-antitrypsin deficiency in a large sibship. — Apprill M, North ML, Mirhom R, Weitzenblum E Respiration; international review of thoracic diseases (1990)
    15. [15]
      Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes. — Cox DW, Billingsley GD American journal of human genetics (1989)
    16. [16]
      A zone electrophoretic-isoelectric focusing study on the inactivation of human alpha 1-antitrypsin by elastase. — Baumstark JS Applied and theoretical electrophoresis : the official journal of the International Electrophoresis Society (1988)
    17. [17]
      Pregnancy and alpha-1 antitrypsin deficiency. — Atkinson AR Postgraduate medical journal (1987)
    18. [18]
      A study of the heterogeneity of human alpha 1-acid glycoprotein with monoclonal antibodies. — Fraeyman NH, de Smet FH, van de Velde EJ Hybridoma (1987)
    19. [19]
      Immunological and chemical properties of mouse alpha 1-protease inhibitors. — Nathoo SA, Finlay TH Archives of biochemistry and biophysics (1986)
    20. [20]
      Secretion of high-mannose-type alpha 1-proteinase inhibitor and alpha 1-acid glycoprotein by primary cultures of rat hepatocytes in the presence of the mannosidase I inhibitor 1-deoxymannojirimycin. — Gross V, Steube K, Tran-Thi TA, McDowell W, Schwarz RT, Decker K et al. European journal of biochemistry (1985)
    21. [21]
      Synthesis of alpha 1-protease inhibitor by resident and activated mouse alveolar macrophages. — Lamontagne LR, Stadnyk AW, Gauldie J The American review of respiratory disease (1985)
    22. [22]
      Sequence homology between human alpha 1-antichymotrypsin, alpha 1-antitrypsin, and antithrombin III. — Chandra T, Stackhouse R, Kidd VJ, Robson KJ, Woo SL Biochemistry (1983)
    23. [23]
      Immunohistochemical demonstration of alpha-1-antitrypsin in liver tissue. A methodological investigation. — Clausen PP Acta pathologica et microbiologica Scandinavica. Section A, Pathology (1980)
    24. [24]
      Fractionation and partial characterization of alpha-1-protease isoinhibitors of horse. — Pellegrini A, von Fellenberg R Biochimica et biophysica acta (1980)
    25. [25]
      Alpha1-antitrypsin deficiency--a literature review and a case report of a patient with chronic obstructive airways disease and cirrhosis. — Coughlin GP, van Deth AG, Ey GT, Grant AK Australian and New Zealand journal of medicine (1977)
    26. [26]
      In vitro synthesis of alpha-1-antitrypsin in long term monolayer human liver cell cultures. — Gautier M, Martin JP, Polini G Biomedicine / [publiee pour l'A.A.I.C.I.G.] (1977)
    27. [27]
      Pulmonary emphysema and liver disease. Occurrence in an alpha-antitrypsin-deficient adult. — Donlan CJ, Ross DG, Golembieski M, Scutero JV JAMA (1975)
    28. [28]
      Alpha-1-antitrypsin deficiency, emphysema, cirrhosis, and intestinal mucosal atrophy. — Greenwald AJ, Johnson DS, Oskvig RM, Aschenbrener CA, Randa DC JAMA (1975)
    29. [29]
      Alpha1-antitrypsin deficiency and hepatic carcinoma. — Schleissner LA, Cohen AH The American review of respiratory disease (1975)
    30. [30]
      Further examples confirming the existence of Pi null (Pi-). — Martin JP Pathologie-biologie (1975)
    31. [31]
      Hereditary alpha1--antitrypsin deficiency associated with congenital extrahepatic bile duct hypoplasia. — Christen H, Bau J, Halsband H Klinische Wochenschrift (1975)
    32. [32]
      Alpha-1-antitrypsin deficiency in pulmonary and liver degeneration. — Fagerhol MK Birth defects original article series (1974)
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