Type

Journal Article

Authors

Noel G McElvaney
Emer P Reeves
P Mark Logan
Catherine O'Connor
Laura T Fee
Jonathan Shum
Tomás P Carroll
Kevin Pennycooke
M Emmet O'Brien

Subjects

Medicine & Nursing

Topics
lung disease alpha 1 antitrypsin deficiency surveys and questionnaires liver disease registries pulmonary disease chronic obstructive severity of illness index tomography x ray computed rare diseases tomography aged 80 and over humans adult smoking smoking cessation tobacco smoke pollution cross sectional studies computerised tomography chronic obstructive x ray computed female disease progression pulmonary disease cigarette smoking health surveys phenotype male bronchiectasis pulmonary emphysema chronic obstructive pulmonary disease copd 80 and over medicine and health sciences ireland middle aged risk factors aged

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. (2015)

Abstract 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.
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Full list of authors on original publication

Noel G McElvaney, Emer P Reeves, P Mark Logan, Catherine O'Connor, Laura T Fee, Jonathan Shum, Tomás P Carroll, Kevin Pennycooke, M Emmet O'Brien

Experts in our system

1
Noel G McElvaney
Royal College of Surgeons in Ireland
Total Publications: 194
 
2
Emer P Reeves
Royal College of Surgeons in Ireland
Total Publications: 63
 
3
Laura T Fee
Royal College of Surgeons in Ireland
Total Publications: 3
 
4
Tomás P Carroll
Royal College of Surgeons in Ireland
Total Publications: 26
 
5
M Emmet O'Brien
Royal College of Surgeons in Ireland
Total Publications: 9