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Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,632
Online ISSN 1827-191X
Schardey H. M., Hernandez-Richter Th., Klueppelberg U.*, Tutsch-Bauer E.**, Lauterjung L.
From the Department of Surgery, *Department of Internal Medicine II, Klinikum Großhadern Ludwig-Maximilians-Universität, Munich
** Institute of Forensic Medicine, Ludwig-Maximilians-Universität, Munich, Germany
Objective. To examine the possible significance of homo- or heterozygous alpha-1-antitrypsin deficiency in the pathogenesis of aortic aneurysms (AA).
Design. Prospective investigation.
Setting. University hospital.
Patients. 300 controls representing the general population in our region of Southern Germany and 126 patients with aneurysmectomy and graft insertion.
Methods. The alpha-1-antitrypsin phenotype was determined by employing isoelectric focusing. Each patient was also evaluated for hypertension, lipometabolic dysfunction, smoking, hyperuricemia, and diabetes mellitus.
Main outcome measures. The frequency and distribution of alpha-1-antitrypsin phenotypes and risk factors.
Results. 115 of 126 patients presented with one or several of the conventional risk factors: hypertension (61.5%), lipometabolic dysfunction (36.9%), smoking (58.4%), hyperuricemia (13.8%), or diabetes mellitus (6.9%). The following frequencies of α-1-antitrypsin phenotypes were determined: PiMM (82.5%), PiMV (4.7%), PiML (1,5%), PiMS (7.1%), PiSS (0.7%), PiMZ (3,0%). Indeed, when compared to the general population (control group) the percentage of the normal PiMM phenotypes was lower in the group of patients with AA (p<0.001). However, in our study this significant difference was not primarily due to the presence of patients homozygous or heterozygous for deficiency alleles PiMS, PiSS and PiMZ (p=0.0523) as has been previously reported, but rather to the high prevalence of the variants PiMV (p<0.005).
Conclusions. Our study suggests that not only Pi-deficiency alleles, previously identified as being associated with AA, but also that Pi variants may play a pivotal role in the pathogenesis of AA.