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

Francesca Sampogna, Diana Bella Camaioni, Anna Rita Giampetruzzi, Rosamaria Corona, Laura Ruzzi, Lorena Silvestri, Biagio Didona

Research output: Contribution to journalArticle

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 studywas 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.

Original languageEnglish
Pages (from-to)356-361
Number of pages6
JournalEuropean Journal of Dermatology
Volume23
Issue number3
DOIs
Publication statusPublished - 2013

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Methylenetetrahydrofolate Reductase (NADPH2)
Mutation
Thromboembolism
Homocysteine
Folic Acid
Control Groups
Skin
Enzymes

Keywords

  • Acrocyanosis
  • Homocysteine
  • MTHFR
  • Polymorphism

ASJC Scopus subject areas

  • Dermatology
  • Medicine(all)

Cite this

Chronic idiopathic acrocyanosis and methylenetetrahydrofolate reductase C677T (p.Ala222Val) and A1298C (p.Glu429Ala) polymorphisms. / Sampogna, Francesca; Camaioni, Diana Bella; Giampetruzzi, Anna Rita; Corona, Rosamaria; Ruzzi, Laura; Silvestri, Lorena; Didona, Biagio.

In: European Journal of Dermatology, Vol. 23, No. 3, 2013, p. 356-361.

Research output: Contribution to journalArticle

Sampogna, Francesca ; Camaioni, Diana Bella ; Giampetruzzi, Anna Rita ; Corona, Rosamaria ; Ruzzi, Laura ; Silvestri, Lorena ; Didona, Biagio. / Chronic idiopathic acrocyanosis and methylenetetrahydrofolate reductase C677T (p.Ala222Val) and A1298C (p.Glu429Ala) polymorphisms. In: European Journal of Dermatology. 2013 ; Vol. 23, No. 3. pp. 356-361.
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AB - 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 studywas 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.

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