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Disease associations in alpha-1-antitrypsin deficiency
H Stone1, A Pye2, R A Stockley1
1ADAPT Project, Lung Function and Sleep Department, Queen Elizabeth Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham B15 2WB, UK.
Respiratory Medicine
|November 2, 2013
Summary
Alpha-1-antitrypsin deficiency (AATD) patients show a higher prevalence of ulcerative colitis than the general population. This study also suggests a potential link between AATD and hypothyroidism.
Area of Science:
- Pulmonology
- Gastroenterology
- Endocrinology
Background:
- Alpha-1-antitrypsin deficiency (AATD) is linked to inflammatory conditions like emphysema, bronchiectasis, and vasculitis.
- The role of AATD in other inflammatory diseases remains largely unexplored.
- This study investigates comorbidities in AATD, focusing on inflammatory bowel disease.
Purpose of the Study:
- To determine the prevalence of comorbidities in patients with alpha-1-antitrypsin deficiency (AATD).
- To specifically assess the association between AATD and inflammatory bowel disease (IBD).
- To explore potential links between AATD and hypothyroidism.
Main Methods:
- Retrospective review of case notes for 651 patients with AATD (PiZZ or PiZnull genotypes).
- Data collected from a UK national AATD center between 1996 and 2011.
- Prevalence rates compared against predicted rates for the general UK population.
Main Results:
- Inflammatory bowel disease prevalence was 1.5% in AATD patients, higher than the UK predicted rate of 0.4%.
- Ten patients had ulcerative colitis, and one had Crohn's disease.
- Hypothyroidism prevalence was higher in the AATD cohort (7.2% of females, 1.3% of males) than expected.
Conclusions:
- A higher prevalence of ulcerative colitis in AATD patients supports a potential link between these conditions.
- The study suggests a possible association between hypothyroidism and alpha-1-antitrypsin deficiency.
- Findings indicate AATD may be associated with a broader range of inflammatory comorbidities.
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