PMID- 33116457
OWN - NLM
STAT- MEDLINE
DCOM- 20210625
LR  - 20210625
IS  - 1178-2005 (Electronic)
IS  - 1176-9106 (Print)
IS  - 1176-9106 (Linking)
VI  - 15
DP  - 2020
TI  - Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a 
      Reference Laboratory.
PG  - 2421-2431
LID - 10.2147/COPD.S269641 [doi]
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) remains largely underdiagnosed 
      despite recommendations of healthcare institutions and programmes designed to 
      increase awareness. The objective was to analyse the trends in AATD diagnosis 
      during the last 5 years in a Spanish AATD reference laboratory. METHODS: This was 
      a retrospective revision of all alpha-1 antitrypsin (AAT) determinations 
      undertaken in our laboratory from 2015 to 2019. We analysed the number of AAT 
      determinations performed and described the characteristics of the individuals 
      tested, as well as the medical specialties and the reasons for requesting AAT 
      determination. RESULTS: A total of 3507 determinations were performed, of which 
      5.5% corresponded to children. A significant increase in the number of AAT 
      determinations was observed from 349 in 2015 to 872 in 2019. Among the samples, 
      57.6% carried an intermediate AATD (50-119 mg/dL) and 2.4% severe deficiency (<50 
      mg/dL). The most frequent phenotype in severe AATD individuals was PI*ZZ (78.5%), 
      and aminotransferase levels were above normal in around 43% of children and 30% 
      of adults. Respiratory specialists requested the highest number of AAT 
      determinations (31.5%) followed by digestive diseases and internal medicine 
      (27.5%) and primary care physicians (19.7%). The main reason for AAT 
      determination in severe AATD adults was chronic obstructive pulmonary disease 
      (41.7%), but reasons for requesting AAT determination were not reported in up to 
      41.7% of adults and 58.3% of children. CONCLUSION: There is an increase in the 
      frequency of AATD testing despite the rate of AAT determination remaining low. 
      Awareness about AAT is probably increasing, but the reason for testing is not 
      always clear.
CI  - (c) 2020 Belmonte et al.
FAU - Belmonte, Irene
AU  - Belmonte I
AUID- ORCID: 0000-0002-8675-8343
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
FAU - Nunez, Alexa
AU  - Nunez A
AUID- ORCID: 0000-0003-4067-0466
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
AD  - Universitat Autonoma de Barcelona, Bellaterra (Cerdanyola del Valles). Barcelona, 
      Spain.
FAU - Barrecheguren, Miriam
AU  - Barrecheguren M
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
FAU - Esquinas, Cristina
AU  - Esquinas C
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
FAU - Pons, Monica
AU  - Pons M
AD  - Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron; 
      Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital 
      Campus, Barcelona, Spain.
FAU - Lopez-Martinez, Rosa M
AU  - Lopez-Martinez RM
AUID- ORCID: 0000-0002-8450-6986
AD  - Department of Clinical Biochemistry, Hospital Universitari Vall d'Hebron, Vall 
      d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
FAU - Ruiz, Gerard
AU  - Ruiz G
AD  - Department of Clinical Biochemistry, Hospital Universitari Vall d'Hebron, Vall 
      d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
FAU - Blanco-Grau, Albert
AU  - Blanco-Grau A
AUID- ORCID: 0000-0002-4213-3827
AD  - Department of Clinical Biochemistry, Hospital Universitari Vall d'Hebron, Vall 
      d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
FAU - Ferrer, Roser
AU  - Ferrer R
AUID- ORCID: 0000-0002-8925-3172
AD  - Department of Clinical Biochemistry, Hospital Universitari Vall d'Hebron, Vall 
      d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
FAU - Genesca, Joan
AU  - Genesca J
AUID- ORCID: 0000-0002-0831-8422
AD  - Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron; 
      Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital 
      Campus, Barcelona, Spain.
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Hepaticas y Digestivas, 
      Madrid, Spain.
FAU - Miravitlles, Marc
AU  - Miravitlles M
AUID- ORCID: 0000-0002-9850-9520
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
AD  - CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.
FAU - Rodriguez-Frias, Francisco
AU  - Rodriguez-Frias F
AUID- ORCID: 0000-0002-9128-7013
AD  - Department of Clinical Biochemistry, Hospital Universitari Vall d'Hebron, Vall 
      d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
LA  - eng
PT  - Journal Article
DEP - 20201007
PL  - New Zealand
TA  - Int J Chron Obstruct Pulmon Dis
JT  - International journal of chronic obstructive pulmonary disease
JID - 101273481
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Adult
MH  - Child
MH  - Humans
MH  - Laboratories
MH  - Phenotype
MH  - *Pulmonary Disease, Chronic Obstructive
MH  - Retrospective Studies
MH  - alpha 1-Antitrypsin/genetics
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis/epidemiology/genetics
PMC - PMC7548232
OTO - NOTNLM
OT  - alpha-1 antitrypsin deficiency
OT  - diagnosis
OT  - lung disease
OT  - screening
COIS- Miriam Barrecheguren has received speaker fees from Grifols, Menarini, CSL 
      Behring, GSK and consulting fees from GSK, Novartis, Boehringer Ingelheim and 
      Gebro Pharma, outside the submitted work. Cristina Esquinas has received speaker 
      fees from CSL Behring. Marc Miravitlles has received speaker or consulting fees 
      from AstraZeneca, Bial, Boehringer Ingelheim, Chiesi, Cipla, CSL Behring, 
      Laboratorios Esteve, Gebro Pharma, Kamada, GlaxoSmithKline, Grifols, Menarini, 
      Mereo Biopharma, Novartis, pH Pharma, Rovi, TEVA, Spin Therapeutics, Verona 
      Pharma and Zambon, personal fees from Sandoz and Ferrer, and research grants from 
      GlaxoSmithKline and Grifols, outside the submitted work. The aforementioned 
      authors report no other potential conflicts of interest for this work. The 
      remaining authors report no conflicts of interest.
EDAT- 2020/10/30 06:00
MHDA- 2021/06/29 06:00
PMCR- 2020/10/07
CRDT- 2020/10/29 05:48
PHST- 2020/06/27 00:00 [received]
PHST- 2020/09/28 00:00 [accepted]
PHST- 2020/10/29 05:48 [entrez]
PHST- 2020/10/30 06:00 [pubmed]
PHST- 2021/06/29 06:00 [medline]
PHST- 2020/10/07 00:00 [pmc-release]
AID - 269641 [pii]
AID - 10.2147/COPD.S269641 [doi]
PST - epublish
SO  - Int J Chron Obstruct Pulmon Dis. 2020 Oct 7;15:2421-2431. doi: 
      10.2147/COPD.S269641. eCollection 2020.