Methodologies for the Determination of Blood Alpha1 Antitrypsin Levels: A Systematic Review

Ruiz-Duque, Borja; Bañuls, Lucía; Reinoso-Arija, Rocío; Carrasco‐Hernández, Laura; Caballero‐Eraso, Candelaria; Dası́, Francisco; Lόpez-Campos, José Luís

doi:10.3390/jcm10215132

Cited by 6 publications

(4 citation statements)

References 42 publications

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“…Our findings align with a clinical and scientific context that has been increasingly focusing on the multitude of manifestations of AATD [41], also considering that this pathological condition, although rare by definition, remains often undiagnosed [42,43]. Pulmonary manifestations are certainly the most frequent, and even individuals with moderate or mild deficiency, such as carriers of the PiSZ or PiMZ genotype, appear to have a significantly increased risk of receiving an early diagnosis of COPD with the classical panacinar emphysema pattern [41].…”

Section: Discussionsupporting

confidence: 83%

Cardiovascular Risk Associated with Alpha-1 Antitrypsin Deficiency (AATD) Genotypes: A Meta-Analysis with Meta-Regressions

Ambrosino,

Marcuccio,

Lombardi

et al. 2023

JCM

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Background. Alpha-1 antitrypsin deficiency (AATD) can result in severe liver and respiratory disorders. The uninhibited elastase activity on the elastic tissue of arterial walls suggests that AATD may also impact vascular health. Thus, we performed a meta-analysis of the studies evaluating cardiovascular risk in individuals with AATD and non-AATD controls. Methods. A systematic literature search was conducted in the main scientific databases according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Differences between cases and controls were expressed as odds ratios (OR) with 95% confidence intervals (95%CI). The protocol was registered on PROSPERO under the identification number CRD42023429756. Results. The analysis of eight studies showed that, with a prevented fraction of disease of 15.0% and a corresponding OR of 0.779 (95%CI: 0.665–0.912; p = 0.002), a total of 24,428 individuals with AATD exhibited a significantly lower risk of ischemic heart disease compared to 534,654 non-AATD controls. Accordingly, given a prevented fraction of disease of 19.5%, a lower risk of acute myocardial infarction was documented when analyzing four studies on 21,741 cases and 513,733 controls (OR: 0.774; 95%CI: 0.599–0.999; p = 0.049). Sensitivity and subgroup analyses substantially confirmed results. Meta-regression models suggested that these findings were not influenced by AATD genotypes or prevalence of chronic obstructive pulmonary disease (COPD) among cases and controls, while higher differences in the prevalence of male sex (Z-score: 3.40; p < 0.001), hypertension (Z-score: 2.31; p = 0.021), and diabetes (Z-score: 4.25; p < 0.001) were associated with a lower effect size. Conclusions. Individuals with AATD may exhibit a reduced risk of ischemic heart disease, even in the presence of mild deficiency of the serine protease inhibitor. Although caution is warranted due to the observational nature of the data, future pharmacological and rehabilitation strategies should also take this controversial relationship into account.

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Section: Discussionsupporting

confidence: 83%

Cardiovascular Risk Associated with Alpha-1 Antitrypsin Deficiency (AATD) Genotypes: A Meta-Analysis with Meta-Regressions

Ambrosino,

Marcuccio,

Lombardi

et al. 2023

JCM

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“…Moreover, the mean AAT value in 25 PI*Z/M wurzburg samples diagnosed at our facility was 53.7 mg/dL, which was in the lower limits of the protective threshold. We should also note that AAT values are occasionally raised not only in individuals with active inflammatory/infectious processes, but also in the event of dehydration, during pregnancy, and in women taking contraceptives [ 20 ]. Thus, considering the great importance of an accurate AATD diagnosis related to rare SERPINA1 variants, the identification of a specific IEF pattern for the M wurzburg variant could prevent the misclassification of samples and make it possible to improve early and accurate AATD detection.…”

Section: Discussionmentioning

confidence: 99%

Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency

Barzon

Ottaviani

Balderacchi

et al. 2022

IJMS

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Alpha1-antitrypsin (AAT) is a serine protease inhibitor that is encoded by the highly polymorphic SERPINA1 gene. Mutations in this gene can lead to AAT deficiency (AATD), which is associated with an increased risk of lung and/or liver disease. On the basis of electrophoretic migration, AAT variants are named with capital letters; M (medium) signifies the normal protein. Among pathological variants, the M-like ones represent a heterogeneous group of rare allelic variants that exhibit the same electrophoretic pattern as the M wild-type protein, which makes them difficult to detect with routine methods. In order to avoid their misdiagnosis, the present study defines and validates effective methods for the detection of two pathogenic M-like variants, Mwurzburg and Mwhitstable. Comparison of protein phenotypes using isoelectric focusing of samples that presented the Mwurzburg variant, as revealed by exons 5 sequencing, identified a particular electrophoretic pattern amenable to the Mwurzburg protein. The specific phenotyping pattern was retrospectively validated, thus enabling the detection of 16 patients with Mwurzburg variant among the subjects already tested but not sequenced according to our diagnostic algorithm. The Mwhitstable allele was detected by intron 4 sequencing of SERPINA1 gene. Mwurzburg and Mwhitstable are often misdiagnosed and the introduction of diagnostic improvements can help the clinical management, especially in patients with established lung disease without any other reported risk factors.

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“…Його референтні значення становлять 110-200 мг/дл, однак він є неспецифічним маркером визначення тяжкості перебігу ГП. Вміст його підвищується при різних хірургічних захворюваннях шлунково-кишкового тракту [49].…”

Section: прогнозування та оцінка ступеня тяжкості гпunclassified

Modern Aspects of Pathogenesis and Diagnosis of Acute Pancreatitis

Kolosovych¹,

Hanol²

2023

Fiziol Zh

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Early adequate treatment of patients with acute pancreatitis leads to a decrease in mortality and reduces the financial burden on medical institutions and the patient, which encourages the continued search for optimal markers for assessing severity and predicting the course of the disease. The aim of this work is to study the modern aspects of the pathogenesis of acute pancreatitis and the role of various biomarkers in the diagnosis of the severity of the course of the disease and the prediction of its complications. The study of the features of the pathogenesis of acute pancreatitis continues, which naturally contributes to the emergence of new diagnostic markers of this disease. It has been proven that most of the etiological factors that cause acute pancreatitis (alcohol, hypoxia, hypercalcemia, hyperlipidemia, certain pharmacological drugs) also contribute to abnormally high oscillations of the Ca2+ level. Therefore, it can be assumed that in acute pancreatitis, Ca2+ is a common trigger for various etiological factors, which trigger the pathological process. In turn, the enzymatic cascade is the starting point for the development of local and systemic inflammatory reactions, manifested by local and systemic effects. Based on the study of the features of the course of severe forms of acute pancreatitis, we established the role of vitamin D deficiency in the development of the disease. In addition, the study of the activity of tissue plasminogen activator and/or the level of thrombin-antithrombin III complex can be interesting as markers of the development of thrombohemorrhagic complications. An increase in the number of positive results of a serological examination for Helicobacter pylori (immunoglobulin M) in patients with a severe course of acute pancreatitis after 7 days from the moment of hospitalization gives reason to consider this indicator as one of the predictors of the development of purulent complications of the disease. Preliminary studies using the proposed diagnostic markers give encouraging results regarding the prognosis for the disease and the life of this extremely complex category of patients.

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Methodologies for the Determination of Blood Alpha1 Antitrypsin Levels: A Systematic Review

Cited by 6 publications

References 42 publications

Cardiovascular Risk Associated with Alpha-1 Antitrypsin Deficiency (AATD) Genotypes: A Meta-Analysis with Meta-Regressions

Cardiovascular Risk Associated with Alpha-1 Antitrypsin Deficiency (AATD) Genotypes: A Meta-Analysis with Meta-Regressions

Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency

Modern Aspects of Pathogenesis and Diagnosis of Acute Pancreatitis

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