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

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.

2022 Brazilian Thoracic Association recommendations for long-term home oxygen therapy.

Some chronic respiratory diseases can cause hypoxemia and, in such cases, long-term home oxygen therapy (LTOT) is indicated as a treatment option primarily to improve patient quality of life and life expectancy. Home oxygen has been used for more than 70 years, and support for LTOT is based on two studies from the 1980s that demonstrated that oxygen use improves survival in patients with COPD. There is evidence that LTOT has other beneficial effects such as improved cognitive function, improved exercise capacity, and reduced hospitalizations.