PMID- 37727673
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230921
IS  - 2312-0541 (Print)
IS  - 2312-0541 (Electronic)
IS  - 2312-0541 (Linking)
VI  - 9
IP  - 5
DP  - 2023 Sep
TI  - Development of a risk score to increase detection of severe alpha-1 antitrypsin 
      deficiency.
LID - 00302-2023 [pii]
LID - 10.1183/23120541.00302-2023 [doi]
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is an under-recognised genetic 
      cause of chronic obstructive lung disease, and many fewer cases than estimated 
      have been identified. Can a reported respiratory and hepatic disease history from 
      a large AATD testing database be used to stratify a person's risk of severe AATD? 
      METHODS: We analysed data extracted from the AATD National Detection Program. 
      Demographics and medical history were evaluated to predict AATD PI*ZZ genotype. 
      Logistic regression and integer programming models identified predictors and 
      obtained risk scores. These were internally validated on a subset of the data. 
      RESULTS: Out of 301 343 subjects, 1529 (0.5%) had PI*ZZ genotype. Predictors of 
      severe AATD were asthma, bronchitis, emphysema, allergies, bronchiectasis, family 
      history of AATD, cirrhosis, hepatitis and history of abnormal liver function 
      tests. The derived model establishes a subject's risk of severe AATD, and scores 
      >/=0 had an estimated risk of 0.41%, sensitivity 84.62% and specificity 24.32%. A 
      model simulating guideline recommendations had an estimated risk of 0.51% with a 
      sensitivity of 37.98% and specificity 46.60%. By recommending screening for 
      scores >/=0, we estimate that more subjects would be screened (75.7% versus 53.4%) 
      and detected (84.6% versus 58.2%) compared to a guideline-simulated model. 
      CONCLUSION: This medical history risk model is a useful predictive tool to detect 
      subjects at greater risk of having severe AATD and improves sensitivity of 
      detection. Scores <0 are at lower risk and may need not be screened; testing is 
      recommended for scores >/=0 and consistent with current guidelines.
CI  - Copyright (c)The authors 2023.
FAU - Riley, E Leonard
AU  - Riley EL
AUID- ORCID: 0000-0003-0204-2573
AD  - Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, Kansas City Veterans Affairs Medical Center, Kansas City, MO, USA.
FAU - Brunson, J Cory
AU  - Brunson JC
AD  - Laboratory for Systems Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, University of Florida College of Medicine, Gainesville, FL, USA.
FAU - Eydgahi, Soroush
AU  - Eydgahi S
AD  - Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, University of Florida College of Medicine, Gainesville, FL, USA.
FAU - Brantly, Mark L
AU  - Brantly ML
AUID- ORCID: 0000-0003-0189-1565
AD  - Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, University of Florida College of Medicine, Gainesville, FL, USA.
FAU - Lascano, Jorge E
AU  - Lascano JE
AD  - Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, University of Florida College of Medicine, Gainesville, FL, USA.
LA  - eng
PT  - Journal Article
DEP - 20230918
PL  - England
TA  - ERJ Open Res
JT  - ERJ open research
JID - 101671641
PMC - PMC10505949
COIS- Conflict of interest: None declared.
EDAT- 2023/09/20 06:42
MHDA- 2023/09/20 06:43
PMCR- 2023/09/18
CRDT- 2023/09/20 03:56
PHST- 2023/05/11 00:00 [received]
PHST- 2023/06/20 00:00 [accepted]
PHST- 2023/09/20 06:43 [medline]
PHST- 2023/09/20 06:42 [pubmed]
PHST- 2023/09/20 03:56 [entrez]
PHST- 2023/09/18 00:00 [pmc-release]
AID - 00302-2023 [pii]
AID - 10.1183/23120541.00302-2023 [doi]
PST - epublish
SO  - ERJ Open Res. 2023 Sep 18;9(5):00302-2023. doi: 10.1183/23120541.00302-2023. 
      eCollection 2023 Sep.