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CURRENT ISSUETHE JOURNAL OF CARDIOVASCULAR SURGERY

A Journal on Cardiac, Vascular and Thoracic Surgery

Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,632

Frequency: Bi-Monthly

ISSN 0021-9509

Online ISSN 1827-191X

 

The Journal of Cardiovascular Surgery 1998 October;39(5):535-9

VASCULAR PAPERS 

    ORIGINAL ARTICLES

Alleles of the ­alpha-1-anti­trypsin phe­no­type in ­patients ­with ­aortic aneu­rysms

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.

language: English


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