α1-Antitrypsin deficiency and inflammatory bowel diseases

Ping Yang, William J. Tremaine, Rebecca L. Meyer, Udaya B.S. Prakash

Research output: Contribution to journalArticle

34 Scopus citations

Abstract

Objective: To evaluate a possible etiologic role of α1- antitrypsin deficiency (α1AD), most frequently caused by a Z allele mutation, in ulcerative colitis (UC) and Crohn disease (CD). Patients and Methods: This retrospective study included 10 patients diagnosed with and/or treated: for inflammatory bowel disease (IBD) between 1976 and 1997 and identified from the Mayo Clinic Medical Index System. All 10 patients had either α1AD and CD or α1AD and UC. The α1-antitrypsin (α1AT) types and levels were determined With isoelectric focusing testing. The allele types, representing genotypes, were designated PiZZ (or ZZ) for homozygotes and PiMZ (or MZ) for heterozygotes. Results: Seven patients had UC: 4 were genotype ZZ and 3MZ. Four of these 7 patients had emphysema, 2 had asthma, and 1 had chronic bronchitis. Five were cigarette smokers, but only 1 had smoked coincident with activity of her UC. Two of the UC patients never smoked, and 1 of these 2 had asthma. Three of the 10 patients had CD, 2 genotype ZZ and 1 MZ. Two of the 3 patients were longterm cigarette smokers, and both had emphysema. Nine of the 10 patients with UC and α1AD required surgery. Conclusions. The need for surgery in patients With UC and α1-AD may point to a unique phenotypic subgroup of patients with α1 AD and severe UC. Further studies are required to substantiate the etiologic role of α1AD in IBD. Our observations, if confirmed by future studies, suggest that in patients with both IBD and chronic obstructive pulmonary disease, α1AD testing should be considered.

Original languageEnglish (US)
Pages (from-to)450-455
Number of pages6
JournalMayo Clinic proceedings
Volume75
Issue number5
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Medicine(all)

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