Alpha-1 deficiency in severe asthma patients

Author:

Zappa M.1,Grossi S.2,Pignatti P.3,Pini L.4,Centis R.5,Migliori G.B.5,Ardesi F.1,Sotgiu G.6,Corsico A. G.7,Spanevello A.8,Visca D.8

Affiliation:

1. Department of Medicine and Surgery, University of Insubria, Varese,

2. Department of Medicine and Cardiopulmonary Rehabilitation, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Tradate,

3. Allergy and Immunology Unit, Istituti Clinici Scientifici Maugeri, IRCCS, Pavia,

4. Department of Clinical and Experimental Sciences, University of Brescia,

5. Clinical Epidemiology of Respiratory Diseases Service, Istituti Clinici Scientifici Maugeri, IRCCS, Tradate,

6. Clinical Epidemiology and Medical Statistics Unit, Department of Medical, Surgical and Pharmacological Sciences, University of Sassari, Sassari,

7. Department of Internal Medicine and Therapeutics, University of Pavia, Division of Respiratory Diseases, Fondazione IRCCS Policlinico San Matteo-University of Pavia, Pavia, Italy

8. Department of Medicine and Surgery, University of Insubria, Varese, Department of Medicine and Cardiopulmonary Rehabilitation, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Tradate,

Abstract

<sec id="st1"><title>INTRODUCTION</title>Alpha-1 antitrypsin (AAT) deficiency, an autosomal co-dominant condition, decreases protein concentration and activity at both serum and tissue levels. Few studies investigated whether the type of SERPINA1 gene phenotype in patients with severe asthma can influence symptoms and disease control during follow-up.</sec><sec id="st2"><title>OBJECTIVE</title>To assess whether the presence of a non-MM genotype of SERPINA1 in patients with severe asthma is associated with disease control, systemic and airway inflammation, lung function and comorbidities prevalence compared to severe asthma patients with a homozygous genotype (MM).</sec><sec id="st3"><title>METHODS</title>Asthmatic patients belonging to Global Initiative for Asthma (GINA) step 5 were retrospectively analysed in an Italian reference asthma clinic. We collected clinical, biological and functional variables at baseline and for the three following years.</sec><sec id="st4"><title>RESULTS</title>Out of 73 patients enrolled, 14 (19.18%) were non-MM and 59 (80.8%) were MM. Asthmatics with non-MM genotype had lower serum AAT concentration (P = 0.004) and higher emphysema prevalence than the MM group (P = 0.003) at baseline. During follow up, only MM patients showed a significant improvement of both ACQ-6 score (P < 0.0001) and eosinophilic systemic inflammation (P < 0.0001).</sec><sec id="st5"><title>CONCLUSIONS</title>Our findings emphasise the importance of a screening for AAT deficiency in severe asthma, as alleles mutation may influence patient’s follow-up.</sec>

Publisher

International Union Against Tuberculosis and Lung Disease

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