title: Alpha-1-antitrypsin phenotypes among patients with intracranial aneurysms.
abstract: A deficiency of alpha 1-antitrypsin has been implicated in the development of arterial aneurysms, including intracranial aneurysms. The authors determined the prevalence of alpha 1-antitrypsin deficiency of different phenotypes in 100 consecutive patients with intracranial aneurysms and compared the distribution of alpha 1-antitrypsin phenotypes to that in the general population (904 people). The study population consisted of 44 men and 56 women with a mean age of 52 years (range 15-81 years). The heterozygous alpha 1-antitrypsin deficiency states (PiMS and PiMZ) were more common in patients (16%) than in the general population (7%), providing an odds ratio of 2.56 (95% confidence interval (CI) 1.32-4.75; p = 0.005). In addition, one patient (1%) was homozygous for the deficient allele (PiZZ) compared to an expected number of 0.015, providing an odds ratio of 67.0 (95% CI 2.0-363.3; p = 0.015). These findings lead the authors to suggest that the heterozygous and homozygous alpha 1-antitrypsin deficiency states are genetic risk factors for the development of intracranial aneurysms.
authors.affiliation: Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: W I
authors.initials: WI
authors.lastname: Schievink
authors.forename: J A
authors.initials: JA
authors.lastname: Katzmann
authors.forename: D G
authors.initials: DG
authors.lastname: Piepgras
authors.forename: D J
authors.initials: DJ
authors.lastname: Schaid
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D002532:Intracranial Aneurysm / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011446:Prospective Studies; D013345:Subarachnoid Hemorrhage / Q000150:complications / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin