Methylenetetrahydrofolate reductase polymorphism associated with moderate hyperhomocysteinaemia in a patient with livedo vasculopathy: treatment with vitamin supplementation and low molecular weight heparin

Abstract

Conflicts of interest: none declared. Sir, Livedo vasculopathy, a distinct form of thrombogenic vasculopathy, is characterized by recurrent painful ulcers of the lower extremity with persistent livedo racemosa.1 High levels of homocysteine are an independent risk factor for arterial occlusive diseases and deep vein thrombosis.2 One study demonstrated a possible association between plasma homocysteine levels and livedo vasculopathy.3, 4 The key enzyme controlling remethylation of homocysteine is 5,10‐methylenetetrahydrofolate reductase (MTHFR). An alanine/valine gene polymorphism caused through a C to T substitution at nucleotide 677 is responsible for a reduced MTHFR activity and increased thermolability of this enzyme in homozygous individuals, resulting in increased plasma homocysteine concentrations, particularly under conditions of low dietary folate intake. We report livedo vasculopathy in a patient with moderate hyperhomocysteinaemia due to homozygous MTHFR gene mutation. A 42‐year‐old woman presented with livedo racemosa and several small bizarrely shaped ulcers and atrophie blanche on the dorsal aspect of both feet and ankles (Fig. 1). Dorsal arteries of both feet were palpable. Colour‐coded duplex sonography and Doppler sonography revealed no signs of venous insufficiency. Ulcers had previously occurred during the summer months and healed with ivory‐coloured scars. The patient denied other medical problems, intake of medications, vitamin supplements, alcohol or drugs, but smoked five cigarettes per day.