alpha(1)-antitrypsin deficiency and inflammatory bowel diseases

Objective: To evaluate a possible etiologic role of alpha(1)-antitrypsin de ficiency (alpha(1)AD), most frequently caused by a Z allele mutation, in ul cerative colitis (UC) and Crohn disease (CD). Patients and Methods: This retrospective study included 10 patients diagnos ed with and/or treated for inflammatory bowel disease (IBD) between 1976 an d 1997 and identified from the Mayo Clinic Medical Index System. All 10 pat ients had either alpha(1)AD and CD or alpha(1)AD and UC, The alpha(1)-antit rypsin (alpha(1)AT) types and levels were determined with isoelectric focus ing 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 3 MZ. 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 h er UC, Two of the UC patients never smoked, and 1 of these 2 had asthma. Th ree of the 10 patients had CD, 2 genotype ZZ and 1 MZ. Two of the 3 patient s were longterm cigarette smokers, and both had emphysema, Nine of the 10 p atients with UC and alpha(1)AD required surgery. Conclusions: The need for surgery in patients with UC and alpha(1)-AD may p oint to a unique phenotypic subgroup of patients with alpha(1)AD and severe UC. Further studies are required to substantiate the etiologic role of alp ha(1)AD in IBD, Our observations, if confirmed by future studies, suggest t hat in patients with both IHD and chronic obstructive pulmonary disease, al pha(1)AD testing should be considered.