Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is an autosomal recessive disease that manifests itself in all age groups. It is characterized by a decrease in the serum level of the most important proteinase inhibitor, namely the alpha-1-antitrypsin (A1-AT).

Causes of this rare congenital disorder are mutations in the gene for A1-AT (SERPINA1, 14q32.1). The most common deficient alleles are PI Z and PI S. In severe A1-AT deficiency, most people have the homozygous genotype PI ZZ.

In most cases, the alpha-1-antitrypsin deficiency is caused by a lung-related symptomatology, in more rare cases it also leads to liver disease.

Continuous loss of lung tissue due to the attack of carcinoid neutrophil elastase causes symptoms such as dyspnea, airway obstruction and cough. Emphysema, sometimes with bronchiectasis, is one of the most common symptoms and occurs especially in young adulthood.

Other characteristic clinical signs are neonatal jaundice with increased conjugated bilirubin. Very rare symptoms are necrotizing panniculitis and secondary vasculitis.

Risk factors such as cigarette smoking or dust exposure accelerate the progression of the disease.