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Alleles of the alpha-1-antitrypsin phenotype in patients with aortic aneurysms
H M Schardey1, T Hernandez-Richter, U Klueppelberg
1Department of Surgery, Klinikum Grosshadern, 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 alpha-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.