Alpha-1 antitrypsin deficiency: epidemiology, etiology, pathophysiology, clinical manifestation, diagnosis, treatment (literature review)

Gabija Žemgulytė1, Aistė Šidlauskaitė1, Miglė Jurgelėnaitė2

1 Lithuanian University of Health Sciences, Faculty of Medicine, Kaunas, Lithuania

2 Lithuanian University of Health Sciences Kaunas Clinics, Department of Pulmonology, Kaunas, Lithuania


Introduction. Alpha-1 antitrypsin (A1AT) is a glycoprotein that protects the body’s tissues from damage caused by substances released by the immune system. It’s deficiency is one of the most common genetic diseases that is underdiagnosed. The main clinical manifestations of A1AT deficiency involve damage to the lungs, liver and rarely the skin. Lung damage can put people at risk for obstructive pulmonary disease (COPD), while liver damage can be manifested by cholestasis, cirrhosis, and increased risk of hepatocellular carcinoma.

Aim: to review the epidemiology, etiology, pathophysiology, clinic, diagnosis and treatment options of alpha-1 antitrypsin deficiency.

Materials and methods: a literature review was performed using PubMed, Science direct and other databases. Keywords used in the search: alpha-1 antitrypsin; alpha-1 antitrypsin deficiency; AATD; SERPINA1; COPD; hepatic cirrhosis. Articles and clinical case publications up to five years old were selected for analysis. The results are described in terms of etiology, pathophysiology, clinical presentation, diagnosis and treatment.

Results: approximately 1 in 2,500 people worldwide suffer from alpha-1 antitrypsin deficiency, but most of them are undiagnosed. This genetic disorder can cause damage to the lungs, liver or, less commonly, to the skin.

Conclusions: alpha-1 antitrypsin deficiency remains largely undiagnosed because the clinical symptoms of this pathology are not specific. To confirm the diagnosis, blood levels of alpha-1 antitrypsin protein should be determined. Specific treatment is only available for patients with lung damage.


Keywords: alpha-1 antitrypsin deficiency, COPD, cirrhosis, A1AT diagnosis, A1AT treatment.