PMID- 35321931
OWN - NLM
STAT- MEDLINE
DCOM- 20220325
LR  - 20231103
IS  - 1600-0617 (Electronic)
IS  - 0905-9180 (Print)
IS  - 0905-9180 (Linking)
VI  - 31
IP  - 163
DP  - 2022 Mar 31
TI  - Disease burden associated with alpha-1 antitrypsin deficiency: systematic and 
      structured literature reviews.
LID - 10.1183/16000617.0262-2021 [doi]
LID - 210262
AB  - Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder characterised by 
      reduced levels of circulating alpha-1 antitrypsin and an increased risk of lung 
      and liver disease. Recent reviews of AATD have focused on diagnosis, epidemiology 
      and clinical management; comprehensive reviews examining disease burden are 
      lacking. Therefore, we conducted literature reviews to investigate the AATD 
      disease burden for patients, caregivers and healthcare systems. Embase, PubMed 
      and Cochrane libraries were searched for AATD publications from database 
      inception to June 2021, in accordance with Preferred Reporting Items for 
      Systematic Reviews and Meta-Analyses guidelines. Most published AATD studies were 
      small and short in duration, with variations in populations, designs, measures 
      and outcomes, complicating cross-study comparisons. AATD was associated with 
      significant pulmonary and hepatic morbidity. COPD, emphysema and bronchiectasis 
      were common lung morbidities, where smoking was a key risk factor. Fibrosis and 
      steatosis were the most common liver complications reported in patients with a 
      PiZ allele. Health status analyses suggested a poorer quality of life for AATD 
      patients diagnosed with COPD versus those with non-AATD-associated COPD. The 
      burden for caregivers included loss of personal time due to caring 
      responsibilities, stress and anxiety. AATD was also associated with high direct 
      medical costs and healthcare resource utilisation.
CI  - Copyright (c)The authors 2022.
FAU - Miravitlles, Marc
AU  - Miravitlles M
AUID- ORCID: 0000-0002-9850-9520
AD  - Pneumology Dept, Hospital Universitari Vall d'Hebron/Vall d'Hebron Research 
      Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain 
      marcm@separ.es.
AD  - CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.
FAU - Herepath, Mike
AU  - Herepath M
AD  - Optimal Access Life Science Consulting, Swansea, UK.
FAU - Priyendu, Asim
AU  - Priyendu A
AD  - Access Consulting, HEOR, Parexel International, Mohali, India.
FAU - Sharma, Sheetal
AU  - Sharma S
AD  - Access Consulting, HEOR, Parexel International, Mohali, India.
FAU - Vilchez, Tatiana
AU  - Vilchez T
AD  - CSL Behring, Barcelona, Spain.
FAU - Vit, Oliver
AU  - Vit O
AD  - CSL Behring, Bern, Switzerland.
FAU - Haensel, Michaela
AU  - Haensel M
AD  - CSL Behring, Marburg, Germany.
FAU - Lepage, Virginie
AU  - Lepage V
AD  - CSL Behring, Paris, France.
FAU - Gens, Helena
AU  - Gens H
AD  - CSL Behring, Hattersheim, Germany.
FAU - Greulich, Timm
AU  - Greulich T
AUID- ORCID: 0000-0002-2368-3014
AD  - Dept of Medicine, Pulmonary and Critical Care Medicine, University Medical Centre 
      Giessen and Marburg, Philipps-University, Centre for Lung Research (DZL), 
      Marburg, Germany.
LA  - eng
PT  - Journal Article
PT  - Systematic Review
DEP - 20220323
PL  - England
TA  - Eur Respir Rev
JT  - European respiratory review : an official journal of the European Respiratory 
      Society
JID - 9111391
SB  - IM
MH  - Bronchiectasis/complications
MH  - Cost of Illness
MH  - Humans
MH  - Pulmonary Emphysema/complications
MH  - Quality of Life
MH  - *alpha 1-Antitrypsin Deficiency/complications/diagnosis/genetics
PMC - PMC9488933
COIS- Conflict of interest: M. Miravitlles has received speaker fees from AstraZeneca, 
      Boehringer Ingelheim, Chiesi, Cipla, GlaxoSmithKline, Menarini, Rovi, Bial, 
      Sandoz, Zambon, CSL Behring, Grifols and Novartis; consulting fees from 
      AstraZeneca, Boehringer Ingelheim, Chiesi, GlaxoSmithKline, Bial, Gebro Pharma, 
      CSL Behring, Laboratorios Esteve, Ferrer, Mereo Biopharma, Verona Pharma, 
      Palobiofarma SL, Spin Therapeutics, pH Pharma, Novartis, Sanofi and Grifols; and 
      research grants from Grifols. Conflict of interest: M. Herepath is the owner and 
      director of Optimal Access Life Science Consulting Limited. Conflict of interest: 
      A. Priyendu is an employee of Parexel. Conflict of interest: S. Sharma is an 
      employee of Parexel. Conflict of interest: T. Vilchez is an employee of CSL 
      Behring. Conflict of interest: O. Vit is an employee of CSL Behring. Conflict of 
      interest: M. Haensel is an employee of CSL Behring. Conflict of interest: V. 
      Lepage is an employee of CSL Behring. Conflict of interest: H. Gens is an 
      employee of CSL Behring. Conflict of interest: T. Greulich reports personal fees 
      from AstraZeneca, Berlin-Chemie, Boehringer Ingelheim, Chiesi, CSL Behring, 
      GlaxoSmithKline and Novartis; grants and personal fees from Grifols; and grants 
      from German Centre for Lung Research (DZL), Marburg, Germany (Deutsches Zentrum 
      fur Lungenforschung), all outside the submitted work. The authors have no other 
      relevant affiliations or financial involvement with any organisation or entity 
      with a financial interest in or financial conflict with the subject matter or 
      materials discussed in the manuscript apart from those disclosed.
EDAT- 2022/03/25 06:00
MHDA- 2022/03/26 06:00
PMCR- 2022/03/23
CRDT- 2022/03/24 05:36
PHST- 2021/12/02 00:00 [received]
PHST- 2022/01/24 00:00 [accepted]
PHST- 2022/03/24 05:36 [entrez]
PHST- 2022/03/25 06:00 [pubmed]
PHST- 2022/03/26 06:00 [medline]
PHST- 2022/03/23 00:00 [pmc-release]
AID - 31/163/210262 [pii]
AID - ERR-0262-2021 [pii]
AID - 10.1183/16000617.0262-2021 [doi]
PST - epublish
SO  - Eur Respir Rev. 2022 Mar 23;31(163):210262. doi: 10.1183/16000617.0262-2021. 
      Print 2022 Mar 31.