title: [Is heterozygote alpha 1-antitrypsin deficiency a risk factor in the etiology of aortic aneurysm?].
abstract: 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.
authors.affiliation: Chirurgische Klinik und Poliklinik, Klinikum Grosshadern, Ludwig-Maximilians-Universität München.
authors.forename: T
authors.initials: T
authors.lastname: Hernandez-Richter
authors.forename: H M
authors.initials: HM
authors.lastname: Schardey
authors.forename: U
authors.initials: U
authors.lastname: Klueppelberg
authors.forename: E
authors.initials: E
authors.lastname: Tutsch-Bauer
authors.forename: L
authors.initials: L
authors.lastname: Lauterjung
authors.forename: F W
authors.initials: FW
authors.lastname: Schildberg
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001014:Aortic Aneurysm / Q000235:genetics* / Q000601:surgery; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012307:Risk Factors; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin