title: Neutrophil elastase in patients with homozygous beta-thalassemia and pseudoxanthoma elasticum-like syndrome.
abstract: In this study we investigated the possible role of neutrophil (PMN) elastase and its natural inhibitor, alpha1-proteinase inhibitor (alpha1-PI) in the pathogenesis of the pseudoxanthoma elasticum (PXE)-like syndrome which is found in patients with homozygous beta-thalassemia. We studied 30 beta-thalassemia homozygotes with the PXE-like syndrome [PXE(+) group], 20 beta-thalassemia homozygotes without this syndrome [PXE(-) group] and 15 healthy controls. Plasma PMN elastase concentration in the PXE(+) and in the PXE(-) group was 136.4 +/- 89 and 163.8 +/- 126 microg/L, respectively (P > 0.05). In the control group, the concentration was 42.9 +/- 16.8 microg/L (P < 0.01 for the comparison with both patients' groups). The plasma alpha1-PI concentration in the PXE(+) and in the PXE(-) group was 2.28 +/- 0.75 and 2.6 +/- 0.96 g/L, respectively (P > 0.05). Using logistic regression, we studied the prognostic value for PXE of the following independent variables: number of transfusions, chelation therapy, mean hemoglobin concentration, PMN elastase concentration, alpha1-PI concentration, chronic transaminase elevation, and positivity for anti-HCV. None of the above variables was found to have significant prognostic value for the PXE. Plasma PMN elastase concentration is elevated in all beta-thalassemia homozygotes; its role in the pathogenesis of the PXE-like syndrome in beta-thalassemia can not be established, but our findings suggest that neutrophils of beta-thalassemia patients are activated, since PMN elastase is a marker of neutrophil activation.
authors.affiliation: 1st Department of Internal Medicine, University of Athens School of Medicine, Athens, Greece. msomarkos@otenet.gr
authors.forename: M
authors.initials: M
authors.lastname: Samarkos
authors.forename: A
authors.initials: A
authors.lastname: Aessopos
authors.forename: C
authors.initials: C
authors.lastname: Fragodimitri
authors.forename: M
authors.initials: M
authors.lastname: Karagiorga
authors.forename: V
authors.initials: V
authors.lastname: Kalotychou
authors.forename: E
authors.initials: E
authors.lastname: Voskaridou
authors.forename: E
authors.initials: E
authors.lastname: Kavouklis
authors.forename: D
authors.initials: D
authors.lastname: Loukopoulos
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D005260:Female; D005293:Ferritins / Q000097:blood; D005820:Genetic Testing; D005914:Globins / Q000235:genetics; D006115:Greece; D006454:Hemoglobins / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D019272:Leukocyte Elastase / Q000097:blood*; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011237:Predictive Value of Tests; D011561:Pseudoxanthoma Elasticum / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000201:enzymology*; D012867:Skin / Q000473:pathology; D000515:alpha 1-Antitrypsin / Q000378:metabolism; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications / Q000201:enzymology* / Q000235:genetics
chemical_list: D006454:Hemoglobins; D000515:alpha 1-Antitrypsin; D005914:Globins; D005293:Ferritins; D019272:Leukocyte Elastase