Background: The diagnosis and clinical management of adults with alpha-1 antitrypsin
deficiency (AATD) have been the subject of ongoing debate, ever since the publication of …

Rare diseases pose particular challenges to patients who are affected, to the clinicians who
care for them, and to the investigators who study their conditions. Although individually …

Abstract α 1-Antitrypsin (AAT) is a 52-kDa circulating serine protease inhibitor. Production of
AAT by the liver maintains 0.9-1.75 mg/mL circulating levels. During acute-phase responses …

Abstract Alpha-1 antitrypsin deficiency (AATD) is relatively common but under-recognized.
Indeed, fewer than 10% of the estimated 100,000 Americans with AATD have been …

α1-Antitrypsin (AT) deficiency is a hereditary disorder that may lead to early-onset
emphysema, and chronic liver disease later in life. Although there are validated methods for …

Background α 1-Antitrypsin (AAT) deficiency variants reduce the concentration of serum AAT
protease inhibitor and can lead to the development of pulmonary and hepatic disease …

The effect of hereditary alpha-1 antitrypsin (AAT) deficiency can manifest clinically in the
form of chronic obstructive pulmonary disease (COPD). AAT deficiency (AATD) is defined as …

Alpha 1 Antitrypsin (AAT) is a highly polymorphic serum protein. Several genetic variants are
associated with varying degrees of decreased serum levels; however, these levels can rise …

Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder that is characterized by a low
serum level of alpha-1-antitrypsin (AAT). The loss of anti-inflammatory and antiproteolytic …

Background Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition
that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Underrecognition has …