{"id":25933,"date":"2025-07-07T20:23:40","date_gmt":"2025-07-07T18:23:40","guid":{"rendered":"https:\/\/centroandaluzalfa1.org\/?p=25933"},"modified":"2026-02-01T10:05:28","modified_gmt":"2026-02-01T09:05:28","slug":"asthma-and-aatd","status":"publish","type":"post","link":"https:\/\/centroandaluzalfa1.org\/en\/asthma-and-aatd\/","title":{"rendered":"Asthma and AATD"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">Asthma and AATD<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Relationship between Asthma and AATD<\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>Prevalence of asthma in alpha-1 antitrypsin deficiency<\/strong><\/h4>\n\n\n\n<p>The association between the two was first mentioned in 1978.<\/p>\n\n\n\n<p>In this case, Larsson et al. reported a 4% asthma prevalence in 246 Swedish patients with severe AATD, the PiZ phenotype.<\/p>\n\n\n\n<p>Since then, many studies have suggested an association between the two, albeit with a wide variability in asthma prevalence in patients with AATD (4\u201345%).<\/p>\n\n\n\n<p>The AATD phenotype may play a role in the prevalence of asthma-AATD overlap.<\/p>\n\n\n\n<p><strong>Patients with the PiMZ phenotype have a three-fold higher prevalence of asthma as the sole diagnosis compared to those with the PiZZ phenotype.<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Cases of asthma and AATD<\/strong><\/h3>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<p>A survey of 166 patients found an 11% prevalence of asthma in patients with AATD with PiZ phenotype whereas the Alpha-1-Antitrypsin Deficiency Registry Study Group, in a study aimed at defining the demographic and clinical characteristics of 1,129 patients with AATD, found a 35% prevalence of asthma diagnoses.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"623\" src=\"https:\/\/centroandaluzalfa1.org\/wp-content\/uploads\/2025\/05\/asma-centro-andaluz-alfa-1.png\" alt=\"\" class=\"wp-image-25926\"\/><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h5 class=\"wp-block-heading\"><\/h5>\n\n\n\n<div class=\"wp-block-cover alignfull has-parallax\" style=\"min-height:100vh;aspect-ratio:unset;\"><div class=\"wp-block-cover__image-background wp-image-25894 has-parallax\" style=\"background-position:50% 50%;background-image:url(https:\/\/centroandaluzalfa1.org\/wp-content\/uploads\/2025\/03\/pacientes-alfa-1.png)\"><\/div><span aria-hidden=\"true\" class=\"wp-block-cover__background has-background-dim-40 has-background-dim\" style=\"background-color:#000000\"><\/span><div class=\"wp-block-cover__inner-container is-layout-flow wp-block-cover-is-layout-flow\">\n<h3 class=\"wp-block-heading alignwide has-white-color has-text-color\" style=\"font-size:48px;line-height:1.2\"><strong>Prevalence of alpha-1 antitrypsin deficiency in asthma<\/strong><\/h3>\n\n\n\n<div class=\"wp-block-columns alignwide is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:60%\">\n<p class=\"has-text-color has-medium-font-size\" style=\"color:#ffffff\">Many studies have documented a higher prevalence of AATD in patients with asthma (5-30%).<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Diagnosis of asthma and alpha-1 antitrypsin deficiency<\/strong><\/h2>\n\n\n\n<p>Asthma is a syndrome that includes diverse clinical phenotypes that share similar clinical manifestations but likely different etiologies.<\/p>\n\n\n\n<p><strong>It is estimated that asthma affects approximately 235 million people worldwide.<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">What is asthma?<\/h3>\n\n\n\n<p>It is defined as a chronic inflammatory disease of the airways, involving various cells and inflammatory mediators.<\/p>\n\n\n\n<p>Besides, it is partly caused by genetic factors and presents with bronchial hyperresponsiveness.<\/p>\n\n\n\n<p>Also, it is caused by variable airflow obstruction, which is totally or partially reversible, either by medication or spontaneously.<\/p>\n\n\n\n<p>The diagnosis is established by the presence of symptoms compatible with asthma along with reversible expiratory airflow limitation.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">What is AATD?<\/h3>\n\n\n\n<p>AATD is a genetic disease inherited in an autosomal codominant manner.<\/p>\n\n\n\n<p>In its severe forms, it predisposes to the development of chronic obstructive pulmonary disease (COPD) and emphysema, as well as liver disease.<\/p>\n\n\n\n<p>Diagnosis is established by determining serum AAT levels, followed by phenotyping and genotyping.<\/p>\n\n\n\n<p>However, currently, given its lower cost and ease of access, genotyping is performed directly rather than phenotyping.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">What should be taken into account?<\/h4>\n\n\n\n<p>It should be noted that AAT is an acute phase reactant and may increase transiently in inflammatory processes.<\/p>\n\n\n\n<p>For this reason, concomitant measurement of C-reactive protein is recommended.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>AAD is considered severe when the serum AAT concentration is below 57 mg\/dL.<\/li>\n\n\n\n<li>The most common genotype is Pi*MM, which is present in approximately 95% of the population and confers normal AAT levels.<\/li>\n\n\n\n<li>The risk of developing disease in AAD is limited almost entirely to the ZZ phenotypes (96%).<\/li>\n\n\n\n<li>The remaining 4% is due to rare deficient variants and the very rare null phenotypes.<\/li>\n<\/ul>\n\n\n\n<h5 class=\"wp-block-heading\"><em>Without research there is no cure<\/em><\/h5>\n\n\n\n<p>Despite this known relationship, COPD due to AATD continues to be a highly underdiagnosed disease due to its low clinical suspicion.<\/p>\n\n\n\n<p>AATD has also been linked to bronchiectasis and asthma, and therefore, it is recommended that it be investigated in patients with partially reversible bronchial asthma.<\/p>\n\n\n\n<p><em>As described below.<\/em><\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>Candidates for determining serum alpha-1 antitrypsin concentration.<\/strong><\/h4>\n\n\n\n<ol class=\"wp-block-list\">\n<li>COPD<\/li>\n\n\n\n<li>Blood relatives of patients with known AATD<\/li>\n\n\n\n<li>Symptoms of dyspnea and chronic cough in many family members<\/li>\n\n\n\n<li>Liver disease of unknown cause<\/li>\n\n\n\n<li>Absence of the alpha-1 peak in the proteinogram<\/li>\n\n\n\n<li>Adults with bronchiectasis<\/li>\n\n\n\n<li>Adult asthma with poorly reversible bronchial obstruction or signs of pulmonary emphysema<\/li>\n\n\n\n<li>Neutrophilic panniculitis<\/li>\n\n\n\n<li>Granulomatous polyangiitis<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Recommendations for its detection<\/strong><\/h3>\n\n\n\n<p><strong>Symptoms in both include cough, excessive sputum production, dyspnea, and wheezing.<\/strong><\/p>\n\n\n\n<p>These symptoms frequently overlap, making it difficult to distinguish between these two conditions, which may be overlapping in some patients.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>AATD can be misdiagnosed as asthma, as asthma symptoms are frequently the first manifestation of AATD.<\/li>\n\n\n\n<li>In addition, they may present with bronchial hyperreactivity and obstruction that is poorly reversible after bronchial remodeling.<\/li>\n\n\n\n<li>Allergy and asthma often coexist with AATD, although the relationship between allergy, asthma, and AATD is unclear.<\/li>\n\n\n\n<li>Due to the overlap of symptoms, diagnosing a specific clinical entity remains difficult.<\/li>\n\n\n\n<li>There are no universal screening recommendations.<\/li>\n<\/ul>\n\n\n\n<h5 class=\"wp-block-heading\"><a href=\"https:\/\/www.who.int\/es\" target=\"_blank\" rel=\"noreferrer noopener\">WHO <\/a>recommends that all adult and adolescent patients with asthma and all patients with COPD be screened for AATD.<\/h5>\n\n\n\n<p><a href=\"https:\/\/site.thoracic.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">The American Thoracic Society (ATS)<\/a> and the <a href=\"https:\/\/www.ersnet.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">European Respiratory Society (ERS)<\/a> issued a joint statement in 2003 outlining standards for diagnosing patients with AATD.<\/p>\n\n\n\n<p>As part of this declaration, recommendations were made regarding the populations for diagnostic testing in adult patients with asthma and non-reversible airflow obstruction (strong recommendation with type A evidence).<\/p>\n\n\n\n<p>The Spanish <a href=\"https:\/\/www.separ.es\/\">Society of Pulmonology and Thoracic Surgery (SEPAR)<\/a> recommends AAT testing in adult patients with bronchial asthma.<\/p>\n\n\n\n<p>This is especially true for those who develop progressive bronchial obstruction or who show signs of pulmonary emphysema.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Key factors<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>It is important to understand that patients with AATD may present with characteristic asthma symptoms, such as atopy and bronchial hyperreactivity.<\/li>\n\n\n\n<li>Furthermore, it is important to understand why the guidelines recommend investigating AATD in patients with COPD or asthma with poorly reversible airway obstruction, given that there is likely a poorly understood overlap syndrome between the two.<\/li>\n<\/ul>\n\n\n\n<p>For this reason, it is necessary to raise awareness among medical professionals about identifying asthma in patients with known AATD and in patients with known asthma.<\/p>\n\n\n\n<p>Active screening for AATD is also considered in patients, specifically those with severe, uncontrolled asthma, poorly reversible airflow obstruction, or concomitant emphysema.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Conclusions<\/h2>\n\n\n\n<p>Alpha-1 antitrypsin deficiency (AATD) has been associated with asthma, with prevalence ranging from 4% to 45% in patients with AATD. Numerous studies have been conducted to determine this relationship, finding varying prevalences of asthma in different AATD phenotypes.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>The prevalence of asthma in patients with AATD varies significantly, from 4% to 45%, depending on the phenotype and the study performed.<\/li>\n\n\n\n<li>AATD phenotypes and asthma: Patients with the PiMZ phenotype have a three-fold higher prevalence of asthma than those with the PiZZ phenotype.<\/li>\n\n\n\n<li>One study reported a 35% rate of asthma diagnoses in 1,129 patients with AATD.<\/li>\n\n\n\n<li>While another study found a 21%\u201338% rate in patients with severe AATD.<\/li>\n\n\n\n<li>Overdiagnosis of asthma: There is concern about the overdiagnosis of asthma in patients with AATD, as symptoms may overlap with those of COPD.<\/li>\n\n\n\n<li>Asthma and atopy: Patients with AATD have a higher prevalence of atopy and allergic manifestations, which can complicate diagnosis.<\/li>\n\n\n\n<li>AATD in asthmatic patients: The prevalence of AATD in asthmatic patients has been documented to be as high as 30% in some studies.<\/li>\n\n\n\n<li>Diagnostic recommendations: It is suggested that all adult and adolescent patients with asthma be evaluated for AATD, especially those with poorly reversible bronchial obstruction.<\/li>\n<\/ul>\n\n\n\n<p>Source:<a href=\"https:\/\/alfa1.org.es\/inscripcion-abierta-para-el-8o-foro-de-pacientes-de-separ\/\"> <\/a><a href=\"https:\/\/centroandaluzalfa1.org\/\">Centro Andaluz Alfa 1<\/a><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/centroandaluzalfa1.org\/en\/news-on-alpha-1-antitrypsine-deficiency\/\">Read more news<\/a><\/div>\n<\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La DAAT se puede diagnosticar err\u00f3neamente como asma, ya que con cierta frecuencia los s\u00edntomas asma son la primera manifestaci\u00f3n de la DAAT.<\/p>\n","protected":false},"author":5,"featured_media":25926,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center 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center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[62],"tags":[],"class_list":["post-25933","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-others"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Asthma and AATD - Centro Andaluz Alfa-1<\/title>\n<meta name=\"description\" content=\"AATD can be misdiagnosed as asthma, as asthma symptoms are frequently the first manifestation of AATD.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/centroandaluzalfa1.org\/en\/asthma-and-aatd\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" 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