Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis

Abstract

Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in SERPINA1 gene. Mutations in the alpha-1 antitrypsin gene lead to production of misfolded AAT resulting in impaired release into the blood. This disorder leads to destruction of connecting tissue especially in lungs and to accumulation of retarded protein in the liver.  Purpose: Most studies addressing AAT deficiency focus on presenting symptoms related to the lungs and liver. We want to take a broader look at this issue, so we have closely examined scientific reports on the presentation of the disease in organs other than the lungs and liver. The goal is to gather holistic knowledge about the disease to enhance awareness and treatment.   Material and methods:    In our paper, we endeavored to address the issue of AAT deficiency comprehensively. We explored symptoms with an emphasis on organs beyond the liver and lungs. We also delved into the etiology, diagnosis, treatment, and prognosis of this disease.   Discussion:   The clinical symptoms of alpha 1 antitrypsin deficiency extending beyond the liver and lungs remain inadequately described. We know that AAT deficiency can lead to excessive destruction of connective tissue in any organ, not just the lungs and liver. Unfortunately, this condition continues to go undiagnosed, and the number of scientific publications on symptoms from other organs is too limited. This affects the insufficient attention given by doctors to tissue destruction in organs other than the lungs and liver.