Livedoid vasculopathy—a vasculitic mimic



Illustration 1.

The patient, a 23-year-old woman, presented with painful red lesions on her legs that had persisted for 1 year and progressively became dark and ulcerated with associated ankle swelling. She smoked 2 cigarettes daily for 2 years and had taken oral contraceptive pills for 2 months. Vasculitic ulcer was suspected following examination at another institution, and oral corticosteroid treatment was given for 3 months, with no relief. Examination at our center revealed multiple tender reticulate, ulcerated lesions around both ankles with serosanguineous discharge (left). Review of her year-long history, which included presence of typical reticulate ulcers below the ankles, an intense burning sensation, and poor response to high-dose steroids, led us to suspect livedoid vasculopathy. Investigations were performed for vasculitis, but all results were normal. The serum homocysteine level was elevated (28.5 μmoles/liter), and she had a heterozygous mutation in the gene for methylenetetrahydrofolate reductase (MTHFR) at position C677T. Skin biopsy from the margins of the ulcer showed hyalinization, fibrinoid changes, and fibrin plugs along vascular channels, consistent with livedoid vasculopathy (right). Injections of low molecular weight heparin were initiated, followed by administration of oral warfarin along with low-dose aspirin, pentoxifylline, folic acid, and topical normal saline compresses. Skin lesions healed within 3 months and anticoagulants were discontinued after 6 months. She continues to take folic acid and aspirin, and the disease is in remission. Livedoid vasculopathy is considered a hypercoagulation disorder commonly associated with protein C and protein S deficiency, prothrombin gene mutation, antithrombin deficiency, activated protein C resistance, and antiphospholipid antibodies. Elevated serum homocysteine levels along with the MTHFR gene mutation have been reported in very few patients, and all of them had the homozygous mutation for the gene (1). Almost 55 cases of livedoid vasculopathy have been reported, with numerous treatments used, including anticoagulants and immunosuppressants (2). This is the first report of a heterozygous MTHFR mutation with increased serum homocysteine, suggesting the importance of this mutation in livedoid vasculopathy, especially when risk factors such as smoking and oral contraceptives are also present. As the symptoms mimic vasculitis, it is important for rheumatologists to be aware of this disease.