Document Detail


Abdominal aortic aneurysms and alpha 1-antitrypsin deficiency.
MedLine Citation:
PMID:  7964438     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The incidence of abdominal aortic aneurysms (AAAs) has been reported to be increased in heterozygous (PiMZ) and homozygous (PiZZ) alpha 1-antitrypsin (alpha 1 AT) deficiency. We report a further case of AAA in a PiSZ alpha 1AT-deficient female with primary biliary cirrhosis (PBC). Moreover, to assess the risk of AAA in patients with PiZZ alpha 1AT deficiency, we conducted a retrospective study based on 30 consecutive autopsied adult cases of severe alpha 1AT deficiency identified during the period 1963-1993 in the city of Malmö, Sweden, during which autopsies were performed in 49,548, or 58.4%, of all residents in the city who died. From the homozygote frequency in the general population, 50 of these would be expected to have alpha 1AT deficiency. The disease had been diagnosed in 35, and autopsies had been performed in 30 adults. Each autopsied case was matched with four controls selected from the same autopsy register, and the Mantel-Haenszel odds ratio (ORmh) was calculated. We found one case of AAA amongst the 30 PiZZ individuals autopsied, and one case amongst 120 autopsied controls (ORmh = 2.65, 95% confidence limits, 0.47-15.0; P = 0.273). We found no significant evidence of the relationship between AAA and the PiZZ polymorphism, although previously reported by others. At least in severe alpha 1AT deficiency, any coexistence of the PiZZ phenotype and AAA would seem to be fortuitous.
Authors:
A N Elzouki; S Eriksson
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of internal medicine     Volume:  236     ISSN:  0954-6820     ISO Abbreviation:  J. Intern. Med.     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1994-11-29     Completed Date:  1994-11-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8904841     Medline TA:  J Intern Med     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  587-91     Citation Subset:  IM    
Affiliation:
Department of Medicine, University of Lund, Malmö General Hospital, Sweden.
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MeSH Terms
Descriptor/Qualifier:
Aged
Aortic Aneurysm, Abdominal / enzymology*,  genetics
Autopsy
Case-Control Studies
Female
Humans
Phenotype
alpha 1-Antitrypsin Deficiency*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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