Abstract

Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the quantification of AAT in peripheral blood were searched in PubMed in July 2021. The selection criteria included (1) any type of study design that included a quantification of AAT in peripheral blood; (2) studies written in English or Spanish; (3) studies evaluating human beings; and (4) studies involving adults. Results: Out of 207 studies, the most frequently used techniques were nephelometry (43.9%), followed by ELISA (19.8%) and turbidimetry (13.5%). Altogether, 182 (87.9%) cases expressed their results in units of gram, while 16 (7.7%) articles expressed them in units of mole. Only 2.9% articles referred to the standard used, 43.5% articles indicated the commercial kit used, and 36.2% indicated the analyzer used. Conclusions: The technical aspects of these determinations are not always reported in the literature. Journals should be attentive to these technical requirements and ensure that they are included in the works in which AAT is determined in order to ensure a correct interpretation of the study findings.

Highlights

  • The early identification and the correct diagnosis of alpha1 antitrypsin (AAT) deficiency (AATD) constitutes one of the great challenges in the management of this clinical condition

  • The present analysis describes the distribution of the different laboratory techniques, units of measurement, and samples for blood AAT level determination in the context of AATD

  • Not all articles indicate these technical aspects of AAT determination, which should be considered a call for action for editors and reviewers of these journals

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Summary

Introduction

The early identification and the correct diagnosis of alpha antitrypsin (AAT) deficiency (AATD) constitutes one of the great challenges in the management of this clinical condition. The consequences of this insufficient diagnosis have a direct impact on the care of patients who do not receive adequate evaluation and treatment. It is not possible to establish preventive measures in sick subjects to avoid the appearance and progression of associated lesions. It has recently been described the considerable burden of this underdiagnosed condition [4,5]. The selection criteria included (1) any type of study design that included a quantification of AAT in peripheral blood; (2) studies written in English or Spanish; (3) studies evaluating human beings; and (4) studies involving adults

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