Alpha-1 Antitrypsin Deficiency

Committed to Alpha-1 Patients

Alpha-1 antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease, and also skin problems (panniculitis) and vasculitis. A large proportion of individuals affected remain undiagnosed and therefore without access to appropriate care and treatment.

Alpha-1 antitrypsin (AAT) is a protein that is produced mostly in the liver. Its primary function is to protect the lungs from neutrophil elastase. Neutrophil elastase is an enzyme that normally serves a useful purpose in lung tissue-it digests damaged or aging cells and bacteria to promote healing. However, if left unchecked, it will also attack healthy lung tissue. Alpha-1 antitrypsin, in sufficient amounts, will trap and destroy neutrophil elastase before it has a chance to begin damaging the delicate lung tissue. Consequently, if an individual doesn’t have enough alpha-1 antitrypsin, the enzyme goes unchecked and attacks the lung.

The Clinical Practice Guidelines published in the Journal of the COPD Foundation, based on the latest evidence, offer the following recommendations for Alpha-1 deficiency testing:

• Anyone who has COPD (emphysema and/or chronic bronchitis), regardless of age or ethnicity.
• People who have unexplained chronic liver disease.
• People who have necrotizing panniculitis, granulomatosis with polyangiitis, or unexplained bronchiectasis.
• Parents, siblings and children, as well as extended family members, of people who have been identified with an abnormal gene for Alpha-1.

The World Health Organization (WHO) recommends all patients with a diagnosis of COPD or adult-onset asthma should be tested for AATD.

The quantitative determination of AAT levels in blood is a crucial first test to identify AATD. Genotyping allows a rapid and precise identification/exclusion of the most common mutations.

The only specific treatment for AATD is the enzyme alpha-1 antitrypsin (intravenous infusion of purified, human AAT) to prevent the progression of lung disease, aiming to increase the level of alpha-1 antitrypsin in the blood. Skin problems usually get better when the enzyme is given.

Kamada is focused on global leadership in AAT Deficiency (AATD) through development, manufacturing, collaborations, and commercialization of innovative therapeutic approaches. Glassia® for AAT Deficiency is the first FDA-approved liquid, ready-to-use IV AAT, Commercialized in the US through Takeda.

Other treatments and interventions are used to treat the lung disease: medications such as bronchodilators or inhaled steroids, pulmonary rehabilitation and use of oxygen. Patients with severe alpha-1 may be candidates for a lung transplant. As with every obstructive lung disease, it is crucial to avoid from smoking.