Chronic idiopathic acrocyanosis and methylenetetrahydrofolate reductase C677T (p.Ala222Val) and A1298C (p.Glu429Ala) polymorphisms

Abstract

Background: Chronic idiopathic acrocyanosis is a common acrosyndrome. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in the metabolism of folate. Two functional polymorphisms of MTHFR have been identified, C677T and A1298C.

Objective: To compare the prevalence of these two MTHFR polymorphisms in patients with chronic idiopathic acrocyanosis to a control group.

Materials and methods: The study was conducted on 43 consecutive patients with acrocyanosis and on 100 controls.

Results: The risk of acrocyanosis was significantly higher in patients homozygous for the mutation c.677C>T compared to those with no mutation (OR = 4.8 (95%CI 1.5-14.9)). The homozygosity TT was associated with an increased homocysteine level.

Conclusion: On the basis of our findings, acrocyanosis could be considered as a cutaneous sign of a "latent" cardiovascular risk. This should be taken into account particularly when acrocyanosis is associated either to other medical conditions that determine vessel wall damage or to conditions that predispose to the risk of thromboembolism.

Keywords: MTHFR; acrocyanosis; homocysteine; polymorphism.