Is heterozygote alpha 1-antitrypsin deficiency a risk factor in the etiology of aortic aneurysm?

A potential role of homozygous or heterozygous alpha-1-antitrypsin deficiency alleles Pi*Z or Pi*S in the pathogenesis of aortic aneurysms has been debated in recently published papers. Therefore, we have determined the alpha-1-antitrypsin phenotype in 103 patients with aortic aneurysms using isoele...

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Bibliographic Details
Published in:Chirurg 1997-05, Vol.68 (5), p.513-516
Main Authors: Hernandez-Richter, T, Schardey, H M, Klueppelberg, U, Tutsch-Bauer, E, Lauterjung, L, Schildberg, F W
Format: Article
Language:ger
Subjects:
Adult
Aged
Aged, 80 and over
Alleles
alpha 1-Antitrypsin - genetics
alpha 1-Antitrypsin Deficiency
Aortic Aneurysm - genetics
Aortic Aneurysm - surgery
Female
Heterozygote
Humans
Male
Middle Aged
Phenotype
Risk Factors
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Summary:A potential role of homozygous or heterozygous alpha-1-antitrypsin deficiency alleles Pi*Z or Pi*S in the pathogenesis of aortic aneurysms has been debated in recently published papers. Therefore, we have determined the alpha-1-antitrypsin phenotype in 103 patients with aortic aneurysms using isoelectric focusing. The vast majority of patients (92.2%) had one or more of the established risk factors: hypertension (65.0%), lipometabolic dysfunction (34.9%), smoking (65.0%), hyperuricemia (16.5%) or diabetes mellitus (8.7%). In our patients, the deficiency alleles Pi*Z and Pi*S were more frequent than in the general population of our region, but these differences did not reach statistical significance (PiMS 6.7 versus 3.4%, PiMZ 3.8 versus 2.5%, PiSS 0,9 versus 0.2%). Furthermore, the patients with heterozygous or homozygous antitrypsin deficiency had similar patterns of risk factors to those of the patients with normal phenotypes. In one patient we found a heterozygous PiMZ antitrypsin deficiency associated with Marfan's syndrome. These data do not support the results of recently published studies of fewer cases that suggest a higher prevalence of antitrypsin deficiency alleles in patients with aortic aneurysms. A heterozygous alpha-1-antitrypsin deficiency as a cause or predisposing factor for the development of aortic aneurysms appears to be of little or no importance.
ISSN:0009-4722
1433-0385