This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Besnier, R Articles by Piette, J C Search for Related Content PubMed PubMed Citation Articles by Besnier, R Articles by Piette, J C Social Bookmarking                   What's this?

Factor V Leiden mutation in Sneddon syndrome

Service de Médecine Interne, Hôpital de la Pitié, Paris, France

C Francès

Service de Médecine Interne, Hôpital de la Pitié, Paris, France

A Ankri

Laboratoire d’Hématologie, Hôpital de la Pitié, Paris, France

M Aiach

Laboratoire d’Hématologie, Hôpital Européen Georges Pompidou, Paris, France

J C Piette

Service de Médecine Interne, Hôpital de la Pitié, Paris, France, jcpiette{at}free.fr

Sneddon syndrome (SNS) is characterizedby the associationof ischaemic cerebrovascularevents and widespread livedo racemosa. Its pathophysiology is still controversial. The aim of this study was to evaluate the prevalence of factor V Leiden mutation in consecutive patients referred for SNS according to antiphospholipid antibodies (aPL) status. Fifty-three Caucasian patients were enrolled from 1996 to 2001. Diagnosis of SNS was based on the presence of a widespread livedo racemosa and at least one clinical neurologic ischaemic event. The following investigations were performed: detection of antithrombin III, protein C and protein S deficiency, lupus anticoagulant, anticardiolipin and anti-b2 glycoprotein I antibodies, biologic false-positive test for syphilis, and factor V Leiden mutation by direct genomic analysis. Fisher’s test and t-test were used for statistics. Detection of aPL on multiple determinationswas negativein 31 patients (group 1) and positivein 22 patients (group 2). Factor V Leiden mutation was detected in six patients (11.3%), heterozygousin all. The frequency of this mutation was statistically higher in group 1 (6/31, 19.3%) than in group 2 (0/22; P 0.035). Within aPL-negative SNS, the comparison of patients with versus without factor V Leiden mutation showed no difference for clinical data or familial history of thrombosis. A high prevalence of heterozygous factor V mutation was found in aPL-negative patients with SNS. This finding adds further arguments to consider SNS as a heterogeneous entity.

Key Words: antiphospholipid antibodies • factor V Leiden • genetics • sneddon syndrome • stroke

Lupus, Vol. 12, No. 5, 406-408 (2003)
DOI: 10.1191/0961203303lu386sr


CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				N. Ayoub, G. Esposito, S. Barete, C. Soria, J.-C. Piette, and C. Frances Protein Z Deficiency in Antiphospholipid-Negative Sneddon's Syndrome Stroke, June 1, 2004; 35(6): 1329 - 1332. [Abstract] [Full Text] [PDF]