Advances in Identifying Urine/Serum Biomarkers in Alpha-1 Antitrypsin Deficiency for More Personalized Future Treatment Strategies

I. Ferrarotti, A. G. Corsico, J. Stolk, S. Ottaviani, M. Fumagalli, S. Janciauskiene, P. Iadarola

Research output: Contribution to journalArticlepeer-review


Alpha1-antitrypsin deficiency (AATD) is a genetic disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk for developing both early-onset lung emphysema and chronic liver disease. Laboratory diagnosis of AATD is not just a matter of degree, although the AAT serum level is the most important determinant for risk of lung damage. While being a single-gene disease, the clinical phenotype of AATD is heterogeneous. The current standard of care for patients affected by AATD-associated pulmonary emphysema is replacement therapy with weekly i.v. infusions of pooled human purified plasma AAT. Although no treatment for liver disease caused by deposition of abnormal AAT in hepatocytes is available, innovative treatments for this condition are on the horizon. This article aims to provide a critical review of the methodological steps that have marked progress in the detection of indicators described in the literature as being "clinically significant" biomarkers of the disease. The development and routine use of specific biomarkers would help both in identifying which patients and when they are eligible for treatment as well as providing additional parameters for monitoring the disease.
Original languageEnglish
Pages (from-to)56-65
Number of pages10
JournalCOPD: Journal of Chronic Obstructive Pulmonary Disease
Issue number1
Publication statusPublished - Feb 1 2017


  • Angiopoietin-like 4 Protein/blood
  • Biomarkers/blood/urine
  • Desmosine/analysis
  • Fibrin Fibrinogen Degradation Products/analysis
  • Humans
  • Liver Cirrhosis/blood/etiology
  • Matrix Metalloproteinase 9/blood
  • MicroRNAs/blood
  • Pulmonary Emphysema/drug therapy/etiology/metabolism
  • Sputum/chemistry
  • alpha 1-Antitrypsin/therapeutic use
  • alpha 1-Antitrypsin Deficiency/complications/drug therapy/genetics/metabolism
  • gamma-Glutamyltransferase/blood
  • Alpha-1 antitrypsin
  • MMP9
  • desmosine
  • fibrinogen degradation products
  • orphan disease


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