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IEF: isoelectric focusing.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Alpha-1 antitrypsin deficiency (AATD) is a genetic predisposition that leads those who carry it to develop mainly respiratory and liver diseases.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The most common deficiency variants of the SERPINA1 gene are the <span class="elsevierStyleItalic">PI*S</span> and the <span class="elsevierStyleItalic">PI*Z</span> alleles (frequency 10.4% and 1.7%, respectively, among the Spanish population<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a>). Classically, a figure has been determined by immunonephelometry to define the “normal” limit of alpha-1 antitrypsin (AAT) levels, and thus it is established as an initial step in the AATD diagnostic algorithm.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Despite the fact that this algorithm proposes 110 mg/dl as the limit (sensitivity: 73.4% and specificity: 88.5%), the lower limit of normal in most laboratories in our hospitals appears to be 90 mg/dl. Subsequently, we are instructed to decide whether to qualify these levels as 'normal' or, if they are decreased, to continue with the next step consisting of phenotyping or genotyping for confirmation of our results or in case of diagnostic uncertainty.</p><p id="par0010" class="elsevierStylePara elsevierViewall">On this basis, a new diagnostic algorithm was designed (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) in which the joint determination of AAT levels and genotyping was carried out from the outset. The aim of the study was to determine whether such action was more beneficial than the current diagnostic algorithm.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> This was carried out by means of an observational, prospective analytical study based on the analysis of a sample of 1510 subjects obtained consecutively from a Pneumology outpatient clinic. The study was conducted in accordance with the Declaration of Helsinki and approved by the corresponding ethics committee. All patients were informed of the objectives of the study and signed an informed consent. Inclusion criteria were willingness to participate in the study, the ability to have AAT blood levels measured and genotyping performed at the same time. The determination of the genotype was based on the use of the so-called hybridization probes or <span class="elsevierStyleItalic">HybProbes</span>, and AAT levels were assessed by immunonephelometry. The mean age of the patient subjects included in the study was 55.04 with a standard deviation of 19.35. 43.9% were women. 54.4% were currently or former smokers. The mean AAT levels assessed were 124.08 mg/dl (±SD: 31.8). The overall detection rate of deficiency variants in the study was 31.4% (<span class="elsevierStyleItalic">Pi*ZZ</span>: 7[0.5%], <span class="elsevierStyleItalic">Pi*SZ</span>: 26[1.7%], <span class="elsevierStyleItalic">Pi*SS</span>: 23[1.5%], <span class="elsevierStyleItalic">Pi*MZ</span>: 112[7.4%], <span class="elsevierStyleItalic">Pi*MS</span>: 287[18.4%] and rare variants: 21[1.4%]).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The results showed that if we had applied the current diagnostic algorithm, and only performed the genetic analysis on patients with AAT levels below the stipulated limit, the percentage of patients in whom the <span class="elsevierStyleItalic">Pi*S</span> and <span class="elsevierStyleItalic">Pi*Z</span> alleles would have been detected would only be 6.49%, and if it had also only been performed on patients with chronic obstructive pulmonary disease, the success rate would decrease to only 1.65%.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The conclusions of the study showed that AAT levels are altered for various reasons (infection, inflammation, neoplasm, …) and the limits considered for the same genotype can be very wide; as an example, we have observed that the <span class="elsevierStyleItalic">Pi*MZ</span> genotype limits range from 66 to 110 mg/dl and the <span class="elsevierStyleItalic">Pi*SS</span> genotype from 75 to 125 mg/dl, so we can easily miss many subjects carrying deficiency alleles, due to 'false negatives'. Genotyping itself proved to be a specific, objective, rapid, cost-effective and therefore efficient compared to phenotyping. Other studies have shown that genotyping alone may be sufficient to reach a diagnosis of AATD without the need to determine AAT levels or follow an algorithm,<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> however, the joint determination of levels and genotyping in the same procedure proved to be more cost-effective and successful, avoiding diagnostic delays and inconvenience for patients.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> For all these reasons, we believe that the current diagnostic algorithm should be reviewed taking into account all of the above.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0025" class="elsevierStylePara elsevierViewall">The authors declare that they have not received any funding for the article.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1811 "Ancho" => 2508 "Tamanyo" => 223224 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0045" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Proposal for a new AATD diagnostic algorithm. IEF: isoelectric focusing.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:1 [ "titulo" => "American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency" ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1164/rccm.168.7.818" "Revista" => array:6 [ "tituloSerie" => "Am J Respir Crit Care Med" "fecha" => "2003" "volumen" => "168" "paginaInicial" => "818" "paginaFinal" => "900" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/14522813" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Déficit de alfa-1-antitripsina en España (variantes deficientes <span class="elsevierStyleItalic">PI*S</span> y <span class="elsevierStyleItalic">PI*Z</span>): prevalencia estimada y número de sujetos calculados para cada fenotipo" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "I. Blanco" 1 => "E. Fernández-Bustillo" 2 => "F.J. de Serres" 3 => "D. Alkassam" 4 => "C. Rodríguez Menéndez" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/s0025-7753(04)74661-8" "Revista" => array:5 [ "tituloSerie" => "Med Clin (Barc)" "fecha" => "2004" "volumen" => "123" "paginaInicial" => "761" "paginaFinal" => "765" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Miravitlles" 1 => "A. Dirksen" 2 => "I. Ferrarotti" 3 => "V. Koblizek" 4 => "P. Lange" 5 => "R. Mahadeva" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1183/13993003.00610-2017" "Revista" => array:5 [ "tituloSerie" => "Eur Respir J" "fecha" => "2017" "volumen" => "50" "paginaInicial" => "1700610" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29191952" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Results of a diagnostic procedure based on multiplex technology on dried blood spots and buccal swabs for subjects with suspected alpha1 antitrypsin deficiency" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J.L. Lopez-Campos" 1 => "F. Casas-Maldonado" 2 => "M. Torres-Duran" 3 => "A. Medina-Gonzálvez" 4 => "M.L. Rodriguez-Fidalgo" 5 => "I. Carrascosa" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.arbres.2020.04.014" "Revista" => array:6 [ "tituloSerie" => "Arch Bronconeumol" "fecha" => "2021" "volumen" => "57" "paginaInicial" => "42" "paginaFinal" => "50" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/34629643" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:1 [ "referenciaCompleta" => "Hernández Pérez JM, Ramos díaz R, Vaquerizo pollino C, Pérez Pérez JA. Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: revelations about underdiagnosis. 2022, <a target="_blank" href="https://doi.org/10.1016/j.pulmoe.2022.01.017">https://doi.org/10.1016/j.pulmoe.2022.01.017</a>." ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000015900000005/v1_202209020725/S2387020622004065/v1_202209020725/en/main.assets" "Apartado" => array:4 [ "identificador" => "43311" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000015900000005/v1_202209020725/S2387020622004065/v1_202209020725/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020622004065?idApp=UINPBA00004N" ]
