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Alpha1-antitrypsin deficiency and inflammatory bowel diseases
P Yang1, W J Tremaine, R L Meyer
1Department of Health Sciences Research, Mayo Clinic Rochester, MN 55905, USA.
Mayo Clinic Proceedings
|May 12, 2000
Summary
Alpha-1 antitrypsin deficiency (alpha1AD) may play a role in severe ulcerative colitis (UC), as many patients with UC and alpha1AD required surgery. Further research is needed to confirm alpha1AD
Area of Science:
- Gastroenterology
- Pulmonology
- Genetics
Background:
- Alpha-1 antitrypsin deficiency (alpha1AD), often due to the Z allele mutation, is a genetic condition.
- Inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn disease (CD), are chronic inflammatory conditions.
- The potential link between alpha1AD and IBD has not been extensively studied.
Purpose of the Study:
- To investigate the possible etiologic role of alpha1-antitrypsin deficiency (alpha1AD) in the development of ulcerative colitis (UC) and Crohn disease (CD).
Main Methods:
- A retrospective review of 10 patients with inflammatory bowel disease (IBD) and alpha1AD diagnosed between 1976 and 1997.
- Analysis of alpha1-antitrypsin (alpha1AT) types and levels using isoelectric focusing.
- Genotyping to determine alpha1AD allele types (PiZZ or PiMZ).
Main Results:
- Seven patients had UC, with 4 being PiZZ and 3 PiMZ genotype.
- Three patients had CD, with 2 being PiZZ and 1 PiMZ genotype.
- Nine of the 10 UC patients with alpha1AD required surgery; several also had chronic obstructive pulmonary disease (COPD) manifestations like emphysema.
Conclusions:
- The high rate of surgery in UC patients with alpha1AD suggests a distinct subgroup with potentially severe disease.
- Further studies are warranted to confirm the etiologic role of alpha1AD in IBD.
- Consider alpha1AD testing in patients with IBD and co-existing chronic obstructive pulmonary disease (COPD).