New Genotype Form
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- ATS, ERS. 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(7):818-900.
- Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha1-antitrypsin deficiency associated with emphysema. N Engl J Med. 1987;316(17):1055-62.
- Dahl M, Hersh CP, Ly NP, et al. The protease inhibitor PI*S allele and COPD: a meta-analysis. Eur Respir J. 2005;26(1):67-76.
- Stoller JK, Lacbawan FL, Aboussouan LS. Alpha-1 antitrypsin deficiency Seattle (WA). 2006 [Updated 2017 Jan 19]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1519/.
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- PROLASTIN SmPC.
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alpha-1-genotype-tool results comments
*The Spanish Society of Pulmonology and Thoracic Surgery Guidelines recommend an annual evaluation of liver function (includes an analysis of ALT, AST, bilirubin, albumin and coagulation tests).
†The Journal of the COPD Foundation Clinical Practice Guidelines recommend annual monitoring of individuals with AAT deficiency (includes an analysis of ALT, AST, GST, bilirubin, albumin, INR, platelet and liver ultrasound); the recommendation is strong with a low quality of evidence.
‡The American Thoracic Society/European Respiratory Society Joint Statement recommends regular physical examinations that include liver function tests and ultrasound examination; in individuals with decompensated cirrhosis periodic CT imaging.
§Strength of the evidence and grading of recommendations: Grade 2B means the strength of the recommendation is weak, with desirable effects closely balanced with undesirable effects2 with the quality of evidence based on randomised trials with limitations including inconsistent results or major methodological weaknesses (B). Grade 2C means the strength of the recommendation is weak, with desirable effects closely balanced with undesirable effects2 with the quality of evidence based on observational studies and generalisations from randomised trials in one group of patients applied to another.
AAT: alpha1 antitrypsin; ALT: alanine transaminase; AST: aspartate aminotransferase; COPD: chronic obstructive pulmonary disease; CT: computed tomography; FEV1: forced expiratory volume in 1 second; GST: glutathione S-transferase; INR: international normalised ratio.