The frequency of Raynaud’s phenomenon in patients with methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia

Ali Koşar,Kadir Serkan Yalçın

doi:10.3906/sag-1903-206

Abstract

Background/aimRaynaud’s phenomenon (RP) is not a rare health problem; global prevalence is about 3%–20%. Etiology and pathophysiology of this pathology has not been clarified. There are many precipitating factors resulting in RP. Hyperhomocysteinemia resulting from methylenetetrahydrofolate reductase (MTHFR) gene mutation may have a role in its etiology. The aim of this study was to observe the frequency of RP in patients with MTFHR gene mutation and hyperhomocysteinemia. Possible relationships among vitamin B12, folic acid, complete blood count (leukocytes and platelets), and c-reactive protein levels and RP were also analyzed.Materials and methodsA total of 388 patients admitted to the internal medicine, hematology, and obstetric clinics of a university hospital between January 2012 and April 2013 ranging in age from 21 to 83 (mean age 38.16 ± 13.1) were enrolled in the study. Eighty-five (21.9%) of the patients were male and 303 (78.1%) were female. MTHFR gene mutation was analyzed in 388 patients; 52 (13.4%) were homozygous, 275 (70.9%) were heterozygous, and 61 (15.7%) were found to be negative for the MTHFR gene mutation and accepted as a control group. Vitamin B12, folic acid, complete blood count (leukocytes and platelets), and c-reactive protein levels were also analyzed.ResultsHomocysteine levels were higher in both heterozygous and homozygous groups (P < 0.05). RP was more frequently observed in patients with elevated homocysteine levels (P < 0.05; X2 = 14.51). There was no significant relationship in other parameters studied.ConclusionRP was more frequently observed in the groups with the MTHFR mutation and hyperhomocysteinemia. Serum homocysteine levels in patients with RP may be helpful for diagnosis.

Highlights

Raynaud’s phenomenon (RP) is paroxysmal reversible ischemia resulting from abnormal arterial vasospastic response due to recurrent cold or emotional stress in the extremities or peripheral parts of body [1]
RP was more frequently observed in patients with elevated homocysteine levels (P < 0.05; X2 = 14.51)
RP was more frequently observed in the groups with the methylenetetrahydrofolate reductase (MTHFR) mutation and hyperhomocysteinemia

Summary

Introduction

Raynaud’s phenomenon (RP) is paroxysmal reversible ischemia resulting from abnormal arterial vasospastic response due to recurrent cold or emotional stress in the extremities or peripheral parts of body [1]. Vasospasm causes diminished arterial blood supply and paleness will be observed, deoxygenation of hemoglobin will result in a dark-blue color change reflecting cyanosis; acidosis will trigger vasodilatation and hyperemia and the color will change to red [2]. When there’s no underlying condition, RP is called primary Raynaud’s phenomenon (PRP). It is converted to 5-methyl tetrahydrofolate by the methylene tetrahydrofolate reductase (MTHFR) enzyme. MTHFR enzyme deficiency will cause higher homocysteine levels. A slight decrease in MTHFR enzyme activity may result in serious outcomes, in arterial diseases such as peripheral neuropathy, due to microangiopathy, stroke, thrombosis, and coronary artery disease [18,19]

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