Alpha1-antitrypsin deficiency and inflammatory bowel diseases

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).