PMID- 25938284
OWN - NLM
STAT- MEDLINE
DCOM- 20160125
LR  - 20150505
IS  - 1541-2563 (Electronic)
IS  - 1541-2563 (Linking)
VI  - 12 Suppl 1
DP  - 2015 May
TI  - The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin 
      deficiency in Ireland: exploiting a national registry to understand a rare 
      disease.
PG  - 2-9
LID - 10.3109/15412555.2015.1021913 [doi]
AB  - Individuals with Alpha-1 antitrypsin deficiency (AATD) have mutations in the 
      SERPINA1 gene causing genetic susceptibility to early onset lung and liver 
      disease that may result in premature death. Environmental interactions have a 
      significant impact in determining the disease phenotype and outcome in AATD. The 
      aim of this study was to assess the impact of smoke exposure on the clinical 
      phenotype of AATD in Ireland. Clinical demographics and available thoracic 
      computerised tomography (CT) imaging were detected from 139 PiZZ individuals 
      identified from the Irish National AATD Registry. Clinical information was 
      collected by questionnaire. Data was analysed to assess AATD disease severity and 
      evaluate predictors of clinical phenotype. Questionnaires were collected from 
      107/139 (77%) and thoracic CT evaluation was available in 72/107 (67.2%). 74% of 
      respondents had severe Chronic Obstructive Pulmonary Disease (COPD) (GOLD stage C 
      or D). Cigarette smoking was the greatest predictor of impairment in FEV1 and 
      DLCO (%predicted) and the extent of emphysema correlated most significantly with 
      DLCO. Interestingly the rate of FEV1 decline was similar in ex-smokers when 
      compared to never-smokers. Passive smoke exposure in childhood resulted in a 
      greater total pack-year smoking history. Radiological evidence of bronchiectasis 
      was a common finding and associated with increasing age. The Irish National AATD 
      Registry facilitates clinical and basic science research of this condition in 
      Ireland. This study illustrates the detrimental effect of smoke exposure on the 
      clinical phenotype of AATD in Ireland and the benefit of immediate smoking 
      cessation at any stage of lung disease.
FAU - O'Brien, M Emmet
AU  - O'Brien ME
AD  - Respiratory Research Division, Department of Medicine, Royal College of Surgeons 
      in Ireland, Education and Research Centre , Beaumont Hospital, Dublin , Ireland.
FAU - Pennycooke, Kevin
AU  - Pennycooke K
FAU - Carroll, Tomas P
AU  - Carroll TP
FAU - Shum, Jonathan
AU  - Shum J
FAU - Fee, Laura T
AU  - Fee LT
FAU - O'Connor, Catherine
AU  - O'Connor C
FAU - Logan, P Mark
AU  - Logan PM
FAU - Reeves, Emer P
AU  - Reeves EP
FAU - McElvaney, Noel G
AU  - McElvaney NG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - COPD
JT  - COPD
JID - 101211769
RN  - 0 (Tobacco Smoke Pollution)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Bronchiectasis/diagnosis/etiology
MH  - Cross-Sectional Studies
MH  - Disease Progression
MH  - Female
MH  - Health Surveys
MH  - Humans
MH  - Ireland
MH  - Male
MH  - Middle Aged
MH  - *Phenotype
MH  - Pulmonary Disease, Chronic Obstructive/diagnosis/*etiology
MH  - Pulmonary Emphysema/diagnosis/*etiology
MH  - Rare Diseases/*complications/diagnosis/genetics/physiopathology
MH  - Registries
MH  - Risk Factors
MH  - Severity of Illness Index
MH  - Smoking/*adverse effects
MH  - Surveys and Questionnaires
MH  - Tobacco Smoke Pollution/*adverse effects
MH  - Tomography, X-Ray Computed
MH  - alpha 1-Antitrypsin Deficiency/*complications/diagnosis/genetics/physiopathology
OTO - NOTNLM
OT  - SERPINA1
OT  - occupational exposure
OT  - passive smoke
OT  - phenotype
OT  - questionnaire
OT  - radiology
EDAT- 2015/05/06 06:00
MHDA- 2016/01/26 06:00
CRDT- 2015/05/05 06:00
PHST- 2015/05/05 06:00 [entrez]
PHST- 2015/05/06 06:00 [pubmed]
PHST- 2016/01/26 06:00 [medline]
AID - 10.3109/15412555.2015.1021913 [doi]
PST - ppublish
SO  - COPD. 2015 May;12 Suppl 1:2-9. doi: 10.3109/15412555.2015.1021913.