Original Articleα1-Antitrypsin Deficiency and Inflammatory Bowel Diseases
Section snippets
PATIENTS AND METHODS
All 10 patients were diagnosed with and/or treated for IBD at Mayo Clinic Rochester. Cases were identified using the Hospital Adaptation of International Classification of Diseases (H-ICDA) codes19 563.0 for CD and 563.1 for UC. Codes 02739.11.0 and 02739.11.1 for α1AD are specific to the Mayo modification of the H-ICDA. Only the patients who had either α1AD and CD or α1AD and UC listed in the Mayo Clinic Medical Index System between 1976 and 1997 are described in this report. The diagnosis of
RESULTS
Table 1 summarizes the pertinent clinical data on the 10 patients identified in this study. Age and calendar year of each important diagnosis and tobacco smoking history are also provided. Seven patients had UC: 4 had the PiZZ allele (cases 1–4), and 3 had the PiMZ allele (cases 5–7). Four of the 7 patients with UC had emphysema, 2 had asthma, and 1 had chronic bronchitis. Five of the 7 were long-term cigarette smokers, and 2 had never smoked. One of the never smokers had asthma (case 7), and
DISCUSSION
Although an elevated fecal level of α1AT has been used as the protein clearance marker in IBD to indicate disease activity,23, 24 UC or CD has not been documented as part of α1AD sequelae. To our knowledge, this is the largest case series in which α1AD is described in association with UC or CD. There are 2 case reports in the literature: the first described a patient with α1AD and CD, in which the diagnosis of α1AD was based on the serum α1AT level and liver biopsy findings.16 The genotype of
ACKNOWLEDGMENTS
The authors wish to thank the secretarial support from Marilyn M. Goodman and the retrieval of cases from Mayo Clinic Medical Index System by James R. Wentz.
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