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Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency. | LitMetric

AI Article Synopsis

  • Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder resulting in low serum AAT levels, increasing the risk of lung and liver diseases like emphysema and cirrhosis, and it's often underdiagnosed.
  • It stems from mutations in the SERPINA1 gene, with the Z variant being the most common, affecting over 3 million individuals globally.
  • Diagnosis involves measuring serum AAT levels and identifying genetic variants, while monitoring lung function is crucial; the only specific treatment for severe cases is the intravenous administration of purified AAT.

Article Abstract

Alpha-1 antitrypsin deficiency (AATD) is a relatively rare genetic disorder, inherited in an autosomal codominant manner, that results in reduced serum AAT concentrations, with a consequent reduction in antielastase activity in the lungs, as well as an increased risk of diseases such as pulmonary emphysema, liver cirrhosis, and necrotizing panniculitis. It results from different mutations in the SERPINA1 gene, leading to changes in the AAT glycoprotein, which can alter its concentration, conformation, and function. Unfortunately, underdiagnosis is quite common; it is possible that only 10% of cases are diagnosed. The most common deficiency is in the Z variant, and it is estimated that more than 3 million people worldwide have combinations of alleles associated with severe AATD. Serum AAT concentrations should be determined, and allelic variants should be identified by phenotyping or genotyping. Monitoring lung function, especially through spirometry, is essential, because it provides information on the progression of the disease. Although pulmonary densitometry appears to be the most sensitive measure of emphysema progression, it should not be used in routine clinical practice to monitor patients. In general, the treatment is similar to that indicated for patients with COPD not caused by AATD. Exogenous administration of purified human serum-derived AAT is the only specific treatment approved for AATD in nonsmoking patients with severe deficiency (serum AAT concentration of < 57 mg/dL or < 11 µM), with evidence of functional loss above the physiological level.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601085PMC
http://dx.doi.org/10.36416/1806-3756/e20240235DOI Listing

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