PMID- 33364772
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201231
IS  - 1176-6336 (Print)
IS  - 1178-203X (Electronic)
IS  - 1176-6336 (Linking)
VI  - 16
DP  - 2020
TI  - Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: 
      Current Perspectives.
PG  - 1243-1255
LID - 10.2147/TCRM.S234377 [doi]
AB  - This review summarizes the current research and outlooks regarding the obstacles 
      to diagnosing and treating early alpha-1-antitrypsin deficiency (AATD). It draws 
      on prior systematic reviews and expert surveys to discover precisely what 
      difficulties exist in early diagnosis and treatment of AATD and elucidate 
      potential solutions to ease these difficulties. The perceived rarity of AATD may 
      translate to a condition poorly understood by primary care physicians, and even 
      many respiratory physicians, which results in opportunities for diagnosis being 
      missed, especially in mild or asymptomatic patients. There are diagnostic 
      techniques involving biomarkers and home testing methods which could improve the 
      rate of early diagnosis. With respect to treatment, AATD involves treating two 
      separate pathologies, lung disease and liver disease. The only specific AATD 
      treatment, augmentation therapy, has proven ability in treating lung disease but 
      not liver disease. Alpha-1-antitrypsin (AAT) synthesized in the liver can form 
      damaging polymers that also result in reduced circulating AAT levels and, whilst 
      liver transplantation is used to effectively treat AATD, it is inappropriate in 
      early disease. Novel therapeutic areas such as gene editing and increasing 
      autophagy are therefore being researched as future treatments. Ultimately, 
      diagnosis and treatment are intrinsically linked in AATD, with earlier diagnosis 
      leading to better treatment options and thus better patient outcomes.
CI  - (c) 2020 Quinn et al.
FAU - Quinn, Mark
AU  - Quinn M
AD  - Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
FAU - Ellis, Paul
AU  - Ellis P
AD  - Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
FAU - Pye, Anita
AU  - Pye A
AUID- ORCID: 0000-0002-2562-0295
AD  - Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
FAU - Turner, Alice M
AU  - Turner AM
AUID- ORCID: 0000-0002-5947-3254
AD  - Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
AD  - University Hospitals Birmingham, Birmingham, UK.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20201216
PL  - New Zealand
TA  - Ther Clin Risk Manag
JT  - Therapeutics and clinical risk management
JID - 101253281
PMC - PMC7751439
OTO - NOTNLM
OT  - chronic obstructive pulmonary disease
OT  - cirrhosis
OT  - diagnostic screening programs
OT  - emphysema
COIS- MQ, PE, and AP report no competing interests. AMT reports grants and personal 
      fees from CSL Behring and Vertex and grants from Grifols and Arrowhead Inc, 
      outside the submitted work, has had grants or honoraria from CSL Behring, Vertex, 
      Arrowhead and Grifols within the last 5 years, and grant funding from Alpha 1 
      Foundation, ATS Foundation and Chest Foundation for work in AATD, and reports no 
      other potential conflicts of interest for this work.
EDAT- 2020/12/29 06:00
MHDA- 2020/12/29 06:01
PMCR- 2020/12/16
CRDT- 2020/12/28 12:04
PHST- 2020/10/06 00:00 [received]
PHST- 2020/11/30 00:00 [accepted]
PHST- 2020/12/28 12:04 [entrez]
PHST- 2020/12/29 06:00 [pubmed]
PHST- 2020/12/29 06:01 [medline]
PHST- 2020/12/16 00:00 [pmc-release]
AID - 234377 [pii]
AID - 10.2147/TCRM.S234377 [doi]
PST - epublish
SO  - Ther Clin Risk Manag. 2020 Dec 16;16:1243-1255. doi: 10.2147/TCRM.S234377. 
      eCollection 2020.