Livedoid vasculopathy associated with combined prothrombin G20210A and factor V (Leiden) heterozygosity and MTHFR C677T homozygosity

Abstract

Livedoid vasculopathy (LV) is an occlusive thrombotic disease of lower extremities. A 34-year-old woman presented with 4-year history of recurrent necrotic and painful lesions with violaceous and purpuric border on both legs. Initial treatment with hydroxychloroquine, dapsone and prednisone were unsuccessful. Skin biopsy showed inflammatory infiltrate with epidermal necrosis. Prothrombin G20210A and factor V-Leiden heterozygosity, and MTHFR C677T homozygosity with hyperhomocysteinemia were confirmed. LV diagnosis was made; acetylsalicylic acid, folic acid, vitamin B12, and prednisone treatement resulted in complete healing. This is the first report on coexistence of prothrombin G20210A, factor V-Leiden, and homozygous MTHFR C677T with hyperhomocysteinemia in LV.

Association between peripheral vascular endothelial dysfunction and livedoid vasculopathy

“…Notably, high homocysteine levels and mutations of the associated methylenetetrahydrofolate reductase gene have been found. 30,31 LV has also been associated with autoimmune diseases such as lupus erythematosus and Sj€ ogren syndrome. 5 A low antinuclear antibody titer (1:40) was noted in 5 of 16 (31.3%) patients tested but no patients had confirmed lupus erythematosus.…”

Painless Livedoid Vasculopathy in a Patient with G20210A Prothrombin Gene Mutation

“…A group from Lebanon has reported a case of 34-year-old female heterozygous for Factor V Leiden, prothrombin G20210A, and C677T methyltetrahydrofolate reductase (MTHFR) homozygosity [22]. C677T genotype of the MTHFR is known to be strongly associated with an increased cardiovascular risk, which is partly explained by prothrombotic effects of homocysteine [22, 23]. Therapy with aspirin, vitamin B12, folic acid, and prednisone led to clinical improvement in their case.…”

“…Several case reports have highlighted the association between G20210A genotype of the prothrombin gene and LV [4, 10, 22, 24–26]. …”

Vasculopatia livedoide: uma doença cutânea intrigante

“…8,42 Vitamin K antagonist oral anticoagulants, especially warfarin, have been used by several authors. 8,12,19,50,51,53,56,69 The INR (International Normalized Ratio) is usually maintained between 1.5 and 2.0. 8,12 However, it is sometimes difficult to manage the use of oral anticoagulants, given the frequent drug interactions and the patient's diet interference (supply of vitamin K in food).…”