In light of developments in the understanding, diagnosis, and management of AATD, an international AATD task force, combining the ATS and ERS, was created to prepare a series of recommen-dations regarding the diagnosis and management of AATD that would guide physicians. The task force adopted an evidence-based approach to systematically review and grade the available […]
There are four benefits of the early detection of AATD, as follows: smoking prevention/cessation; minimizing the hazards of occupational respiratory pollutants; the opportunities to receive augmentation therapy; and the potential for family planning and guided genetic counseling/testing. Symptomatic individuals may require life-long therapy, and early detection may reduce the clinical and economic burdens of progressive […]
Asymptomatic individuals who are identified as having AATD may have a normal childhood and adulthood but are at risk of developing symptoms of lung or liver disease later in life. Men with AATD between 51 and 60 years of age show an increased risk of developing liver disease. Nonsmoking individuals with the PI ZZ phenotype […]
The AAT protein is encoded by the protease inhibitor (PI) locus located on chromosome 14q32.1. Normal levels of AAT protein protect the tissues against enzymatic degradation by neutrophil elastase. The PI locus is highly polymorphic, and approximately 100 variants have been identified. Normal serum levels of AAT are associated with the M allele, and reduced […]
α1 – Antitrypsin deficiency (AATD) is an autosomal co-dominant genetic disorder characterized by insufficient secretion or production of serum a1-antitrypsin (AAT). AATD carries a risk factor that predisposes children to liver disease and adults to emphysema, although there are other associated pulmonary and nonpulmonary conditions. AATD is the most common genetic cause of neonatal liver […]
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