Bonnie shares her story of being diagnosed with Alpha-1 Antitrypsin Deficiency and learning to manage the rare disease.

A new study presented at the 2013 American Thoracic Society International Conference suggests that using Alpha-1 proteinase inhibitor (A1-PI) to treat patients with Alpha-1 antitrypsin deficiency ...

Please provide your email address to receive an email when new articles are posted on . Direct-to-consumer testing, combined with clinical follow-up, helped identify patients with undiagnosed alpha-1 ...

We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. Patients with alpha-1 antitrypsin deficiency (AATD) ...

Alpha-1 antitrypsin (AAT) deficiency is a genetic disease where your body doesn’t make enough normal functioning AAT. AAT is a protein your liver makes. AAT has many important roles in your body, ...

At least 60 deficient mutations have been described. They comprise single point mutations, truncated (nonsense, frameshift and splicing) mutations, deletions of single codons and larger deletions.

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that may increase the risk of lung disease and other conditions. People with AATD lack the protective protein alpha-1 antitrypsin (AAT).

Sarah K. Brode, Simon C. Ling and Kenneth R. Chapman In this review, we highlight the pathogenesis, clinical features, diagnosis and treatment of alpha-1 antitrypsin deficiency. The evidence used in ...

Chronic obstructive pulmonary disease (COPD) is a group of conditions that cause breathing problems. The two main ones are chronic bronchitis and emphysema. Researchers have identified alpha-1 ...

Alpha-1 antitrypsin deficiency is an inherited disorder that mostly affects the lung and liver. The condition occurs all over the world but its incidence differs according to regions and population.