The only disease-specific treatment for AATD-associated lung disease is intravenous augmentation therapy, which contains AAT protein from purified human blood plasma. Treatment for AATD-associated lung disease includes inhaled medications, immunisation against respiratory viruses, antibiotics to treat acute respiratory infections, supplemental oxygen and exercise. Environmental factors, such as exposure to tobacco smoke, chemicals and dust, probably impact the severity of AATD-associated lung disease. The heterogeneity of the clinical picture of AATD depends on a variety of genetic and external aspects.

The signs and symptoms of the condition and the age at which they appear vary significantly among individuals. PiMM is the normal allele, while PiMZ has one normal and one defective allele and PiZZ is the most common allele that causes AATD. The SERPINA1 gene has more than 100 variants, coded for by two alleles (different versions of the same gene). AATD is an inherited condition that is caused by mutations in the SERPINA1 gene, which can lead to a shortage of AAT or an abnormal form of the protein that cannot control neutrophil elastase.

AAT protects the body from a powerful enzyme called neutrophil elastase. People with this condition have a much lower level than normal of the protective protein alpha-1 antitrypsin (AAT) in their blood. Alpha-1 antitrypsin deficiency (AATD) is one of the most frequent rare diseases in Europe and may result in serious lung disease and/or liver disease in adults.

7 days to die alpha 1