PMID- 37146883
OWN - NLM
STAT- MEDLINE
DCOM- 20230811
LR  - 20230811
IS  - 2213-2201 (Electronic)
VI  - 11
IP  - 8
DP  - 2023 Aug
TI  - Improving Detection of Alpha-1 Antitrypsin Deficiency: Role of the Allergist.
PG  - 2348-2354
LID - S2213-2198(23)00468-3 [pii]
LID - 10.1016/j.jaip.2023.04.027 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that manifests as 
      lung and/or liver disease. Because symptoms of AATD overlap with those of common 
      pulmonary and hepatic conditions, AATD is often misdiagnosed, which has resulted 
      in substantial underdiagnosis of AATD worldwide. Although screening patients for 
      AATD is recommended, the lack of procedures to facilitate testing remains a 
      barrier to accurate diagnosis of AATD. Delays in AATD diagnosis can worsen 
      outcomes for patients by postponing appropriate disease-modifying treatments. 
      Patients with AATD-related lung disease experience symptoms similar to other 
      obstructive lung disorders and are often misdiagnosed for years. In addition to 
      existing screening guidelines, we recommend that screening for AATD become a 
      standard part of allergists' workups of patients with asthma and fixed 
      obstructive disease, chronic obstructive pulmonary disease, bronchiectasis 
      without known origin, and patients under consideration for treatment with 
      biologics. This Rostrum article reviews screening and diagnostic tests available 
      in the United States and emphasizes evidence-based strategies to increase testing 
      frequency and improve AATD detection rates. We underscore the pivotal role of 
      allergists in managing care for patients with AATD. Finally, we urge health care 
      providers to be aware of potentially poor clinical outcomes among patients with 
      AATD during the coronavirus disease 2019 pandemic.
CI  - Copyright (c) 2023 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Craig, Timothy J
AU  - Craig TJ
AD  - Penn State Health Allergy, Asthma, and Immunology, Hershey, Pa. Electronic 
      address: tcraig@pennstatehealth.psu.edu.
FAU - Corbett, Mark L
AU  - Corbett ML
AD  - Family Allergy and Asthma, Louisville, Ky.
FAU - Meadows, J Allen
AU  - Meadows JA
AD  - Alabama College of Osteopathic Medicine, AllerVie Health, Montgomery, Ala.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20230503
PL  - United States
TA  - J Allergy Clin Immunol Pract
JT  - The journal of allergy and clinical immunology. In practice
JID - 101597220
SB  - IM
MH  - Humans
MH  - Allergists
MH  - *COVID-19/complications
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis
MH  - *Pulmonary Disease, Chronic Obstructive/diagnosis
MH  - Lung
OTO - NOTNLM
OT  - AATD
OT  - Allergist
OT  - Alpha-1 antitrypsin deficiency
OT  - Asthma
OT  - COPD
OT  - Delayed diagnosis
OT  - Genotype
OT  - Lung
OT  - Rare disease
EDAT- 2023/05/06 09:42
MHDA- 2023/08/11 06:43
CRDT- 2023/05/05 19:28
PHST- 2022/10/14 00:00 [received]
PHST- 2023/03/24 00:00 [revised]
PHST- 2023/04/10 00:00 [accepted]
PHST- 2023/08/11 06:43 [medline]
PHST- 2023/05/06 09:42 [pubmed]
PHST- 2023/05/05 19:28 [entrez]
AID - S2213-2198(23)00468-3 [pii]
AID - 10.1016/j.jaip.2023.04.027 [doi]
PST - ppublish
SO  - J Allergy Clin Immunol Pract. 2023 Aug;11(8):2348-2354. doi: 
      10.1016/j.jaip.2023.04.027. Epub 2023 May 3.