Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis

Therapeutic Advances in Respiratory Disease
Timm Greulich, Claus Vogelmeier

Abstract

Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder that is characterized by a low serum level of alpha-1-antitrypsin (AAT). The loss of anti-inflammatory and antiproteolytic functions, together with pro-inflammatory effects of polymerized AAT contribute to protein degradation and increased inflammation resulting in an increased risk of developing chronic obstructive pulmonary disease (COPD) and emphysema, especially in smokers. AATD is a rare disease that is significantly underdiagnosed. According to recent data that are based on extrapolations, in many countries only 5-15% of homozygous individuals have been identified. Furthermore, the diagnostic delay typically exceeds 5 years, resulting in an average age at diagnosis of about 45 years. Although the American Thoracic Society/European Respiratory Society recommendations state that all symptomatic adults with persistent airway obstruction should be screened, these recommendations are not being followed. Potential reasons for that include missing knowledge about the disease and the appropriate tests, and the low awareness of physicians with regard to the disorder. Once the decision to initiate testing has been made, a screening test (AAT serum level or other) should...Continue Reading

References

May 26, 1977·The New England Journal of Medicine·J O MorseB Burrows
Jun 1, 1978·The Journal of Pediatrics·M L O'BrienW H Murphey
Jun 1, 1979·Thorax·T Sveger, P Mazodier
Apr 15, 1976·Human Genetics·J J Hoffmann, W G van den Broek
Jun 10, 1976·The New England Journal of Medicine·T Sveger
Oct 1, 1989·The American Review of Respiratory Disease·E K SilvermanE J Campbell
Oct 1, 1988·European Journal of Pediatrics·J KimpenJ Raus
Mar 1, 1986·Chest·J LiebermanA Sastre
Jan 1, 1980·Human Genetics·J H DijkmanB G ter Haar
Nov 1, 1994·Cleveland Clinic Journal of Medicine·J K StollerJ Spray
Oct 1, 1993·Biochemical Medicine and Metabolic Biology·W C SpenceP D Murphy
Jan 5, 2002·The New England Journal of Medicine·Robin W Carrell, David A Lomas
May 25, 2002·The Journal of Biological Chemistry·Sabina JanciauskieneSten Eriksson
Sep 6, 2002·The European Respiratory Journal·M WenckerE J Campbell
Oct 3, 2002·Nature Reviews. Genetics·David A Lomas, Robin W Carrell
Oct 3, 2003·American Journal of Respiratory and Critical Care Medicine·UNKNOWN American Thoracic Society, UNKNOWN European Respiratory Society
Oct 17, 2003·Digestive Diseases and Sciences·Steven J SteinerJoseph F Fitzgerald
Jun 1, 2004·Thorax·D A Lomas, H Parfrey
Jun 28, 2005·Lancet·James K Stoller, Loutfi S Aboussouan
Oct 6, 2005·The European Respiratory Journal·C de la RozaM Miravitlles
Oct 21, 2005·Chest·James K StollerCharlie Strange
Mar 3, 2007·The European Respiratory Journal·R A StockleyUNKNOWN Alpha One International Registry (AIR) group
Oct 30, 2007·Translational Research : the Journal of Laboratory and Clinical Medicine·Ilaria FerrarottiMaurizio Luisetti
Dec 14, 2007·Clinical Chemistry and Laboratory Medicine : CCLM·Farid ZerimechMalika Balduyck
Jan 11, 2008·Cleveland Clinic Journal of Medicine·James K StollerCharlie Strange
Mar 21, 2008·Respiratory Medicine·Laura FregoneseBarbera Veldhuisen
Nov 18, 2008·Respiratory Medicine·Loutfi S Aboussouan, James K Stoller
Jun 26, 2009·The New England Journal of Medicine·Edwin K Silverman, Robert A Sandhaus
Jul 28, 2010·Therapeutic Advances in Respiratory Disease·Thomas KöhnleinTobias Welte
Jun 10, 2011·Therapeutic Advances in Respiratory Disease·Jesús MolinaMarc Miravitlles
Jul 15, 2011·Respiratory Research·Tomás P CarrollNoel G McElvaney

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Citations

Jun 11, 2016·Orphanet Journal of Rare Diseases·Timm GreulichAndreas Rembert Koczulla
Aug 21, 2016·American Journal of Clinical Pathology·Neval AkbasSridevi Devaraj
Nov 5, 2016·Expert Review of Respiratory Medicine·Maria Paula Henao, Timothy J Craig
Nov 5, 2016·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Irma Godoy
Jun 3, 2018·Journal of Medical Economics·Shweta ShahReuben Howden
Nov 13, 2018·Gastroenterology Nursing : the Official Journal of the Society of Gastroenterology Nurses and Associates·Jose Melendez-RosadoWilliam C Palmer
Nov 5, 2019·Annals of Clinical Biochemistry·Gareth C McKeemanDanielle B Freedman
Apr 19, 2017·Respiratory Research·Florian M KarlUNKNOWN COSYCONET Study Group
Apr 11, 2020·Journal of the American College of Nutrition·Virginia M LindleySushil K Jain
Jul 13, 2018·Orphanet Journal of Rare Diseases·María Torres-DuránFrancisco Dasí
Apr 3, 2020·Journal of Clinical Medicine·María Ángeles Requena-FernándezAmparo Escribano
Jul 24, 2020·European Respiratory Review : an Official Journal of the European Respiratory Society·Ignacio BlancoMarc Miravitlles
Jul 18, 2020·The European Respiratory Journal·Tomoko NakanishiJ Brent Richards
Dec 18, 2020·International Journal of Chronic Obstructive Pulmonary Disease·Robert A SandhausRobert A Stockley
Oct 30, 2020·International Journal of Chronic Obstructive Pulmonary Disease·Robert SandhausReuben Howden
Aug 20, 2021·Therapeutic Advances in Chronic Disease·Vickram Tejwani, James K Stoller

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Methods Mentioned

BETA
electrophoresis
PCR
targeted

Software Mentioned

IDDEA

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