Livedoid vasculiltis associated with a double heterozygous Factor V Leiden and prothrombin G20210A gene mutations

Abstract

Livedoid vasculitis (LV) may be an isolated condition or associated with an underlying systemic disease, including coagulation disorders, periarteritis nodosa and systemic autoimmune diseases. The classic histological features of LV (fibrin deposition on dermal vessels and the absence of important perivascular infiltrate or leucocytoclasia) argue against a primary vasculitis and is more in keeping with a thrombotic process. Factor V Leiden mutations have rarely been reported in association with LV. We report a patient with LV, who had doubly inherited thrombophilia, with heterozygous mutations in the Factor V Leiden (G1691A) and prothrombin (G20210A) genes.

Vasculopatia livedoide: uma doença cutânea intrigante

“…21 Direct immunofluorescence usually demonstrates deposition of immunoglobulin, fibrin and complement components. 34 Khenifer et al suggest that the DIF findings are not specific to LV. 34 According to Hesse & Kutzner, histopathology of LV can be observed in various evolutionary stages: 21 FIGURE 5: Fibrinolytic pathway.…”

“…34 Khenifer et al suggest that the DIF findings are not specific to LV. 34 According to Hesse & Kutzner, histopathology of LV can be observed in various evolutionary stages: 21 FIGURE 5: Fibrinolytic pathway. Tissue plasminogen activator (t-PA) converts plasminogen into plasmin, which cleaves the clot (thrombus, formed from fibrin combined to platelets), generating fibrin degradation products (FDP) and d-dimers.…”

“…21 Direct immunofluorescence usually demonstrates deposition of immunoglobulin, fibrin and complement components. 34 There is deposition of fibrin on the vessel walls in the initial stages, and deposition of immunoglobulins and complement is detected in later stages. 1,58,63,64 17,34 Some authors have interpreted the frequent finding of IgM in DIF studies on LV as a consequence of the sequestration of large complexes of immunoglobulin M, which has very high molecular weight, by deposits of fibrin in damaged vessels.…”

“…There is perivascular lymphocytic infiltration, usually at a minimum degree. 34 Thus, the following aspects are cardinal histopathological findings of LV: deposition of fibrinoid material in the vascular lumen, hyalinization of the vessel wall, tissue infarctions and no true vasculitis ( Figure 6). 21 Direct immunofluorescence usually demonstrates deposition of immunoglobulin, fibrin and complement components.…”

“…21 Among the several reported associations between LV and hypercoagulable states are the following: protein C deficiency, factor V (Leiden) mutation, prothrombin gene mutation, hyperhomocysteinemia, increased levels of lipoprotein(a) and antithrombin deficiency. 8,9,14,20,[30][31][32][33][34][35][36] Consequently, given the heterogeneity of the etiopathogenic factors clinically involved in LV, we propose to classify it according to its etiopathogenesis into primary (idiopathic) or secondary to a known event or condition, with the latter being subdivided into four groups: (i) endothelial damage, (ii) changes in blood flow, (iii) states related to thrombophilias, and (iv) mixed etiopathogenesis.…”