Abstract
Currently, most diagnostic algorithms for alpha-1 antitrypsin deficiency (AATD) commence with the measurement of serum alpha-1 antitrypsin (AAT) levels, followed by genotyping or phenotyping to confirm the deficiency [1]. However, there is no consensus on the threshold level at which further diagnostic procedures should be pursued [2–5]. To make matters more complicated, it has been shown that elevated acute phase reactants, such as C-reactive protein (CRP), can modify AAT values, further complicating diagnosis [6]. Of note, there no agreement on the AAT threshold levels when a pro-inflammatory situation with increased CRP is present. By examining a real-life prospective cohort encompassing a variety of mutations, the current analysis seeks to establish the optimal cut-off value for serum AAT levels in diagnosing AATD adjusting the estimation with the value of CRP.
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