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Assessment of Blood-Count-Derived Biomarkers, Homocysteine Levels, MTHFR Mutation, and Clinical Manifestations in

Orsolya-Zsuzsa Akácsos-Szász1,2, Zsuzsánna Simon-Szabó3,4, Ana-Claudia Cârstea5

  • 1Doctoral School, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540142 Targu Mures, Romania.

Biomedicines
|January 28, 2026
PubMed

Insights

Peripheral artery disease (PAD) patients with MTHFR gene mutations and elevated homocysteine levels face higher risks. Blood inflammatory markers can predict complications in PAD, aiding clinical care.

Area of Science:

  • Vascular Surgery
  • Diabetology
  • Genetics

Background:

  • Peripheral artery disease (PAD) can lead to severe complications like limb amputation, particularly in patients with type 2 diabetes mellitus (T2DM).
  • Identifying risk factors and prognostic markers is crucial for managing PAD patients and preventing adverse outcomes.

Purpose of the Study:

  • To investigate risk factors and prognostic markers in PAD patients undergoing surgical intervention.
  • To assess the association between T2DM, inflammatory markers, MTHFR gene mutations, and hyperhomocysteinemia in PAD patients.

Main Methods:

  • A cohort of 99 PAD patients was studied, stratified by T2DM status.
  • Blood counts, protein/albumin levels, wound cultures, homocysteine levels, and MTHFR gene mutations (C677T) were analyzed.
  • Severe cases requiring amputation (n=31) were specifically examined for hyperhomocysteinemia and MTHFR mutations.

Main Results:

  • T2DM patients were significantly older. Pathological blood inflammatory markers correlated with longer patient length of stay.
  • Common pathogens included S. aureus, P. mirabilis, P. vulgaris, S. agalactiae, and C. albicans.
  • 58% of severe cases had hyperhomocysteinemia, with significantly higher homocysteine levels in those with homozygous MTHFR mutations (19% of severe cases).

Conclusions:

  • Homozygous MTHFR gene mutations are linked to hyperhomocysteinemia in PAD patients.
  • Blood-count-derived inflammatory markers may serve as indicators of unfavorable outcomes and potential complications in PAD.
  • These findings can assist clinicians in identifying high-risk PAD patients requiring closer monitoring and intervention.

Keywords:
blood-count-derived biomarkersdiabetes mellitushomocysteinemethylenetetrahydrofolate reductase mutationperipheral artery disease

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