Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that primarily affects the lungs and liver. It is considered a rare disease, but it is also significantly underdiagnosed. Given the availability of specific treatment, which involves the administration of purified alpha-1 antitrypsin (AAT) derived from human plasma in patients with COPD due to AATD, identifying these patients is crucial. We summarize the recently issued Italian recommendations for the diagnosis of AATD and place them in the context of Czech standards.
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