SavedAdd your journal

Journals / Solunum / 2010 / Cilt: 12 - Sayı: 1

Mild hyperhomocysteinemia and heterozygous methylenetetrahydrofolate reductase mutation associated with pulmonary thromboembolism

Hafif hiperhomosisteinemi ve heterozigot metilentetrahidrofolat redüktaz mutasyonu ile ilişkili pulmoner tromboemboli

Baykal TÜLEK
Mecit SÜERDEM
Journal
Solunum
Pages
52–55
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We suggest that MTHFR 677C-T mutation might be investigated in thromboembolic diseases when no other hereditary or acquired risk factors were found.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Hyperhomocysteinemia is known to be a significant risk factor for arterial occlusive vascular diseases and venous thrombosis.
📊
Key Findings & Data:Here, we have reported two patients with pulmonary thromboembolism who had heterozygous 677C-T mutation in the methylenetetrahydrofolate reductase (MTHFR) enzyme.
💡
Conclusion & Impact:We suggest that MTHFR 677C-T mutation might be investigated in thromboembolic diseases when no other hereditary or acquired risk factors were found.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Hyperhomocysteinemia is known to be a significant risk factor for arterial occlusive vascular diseases and venous thrombosis. Here, we have reported two patients with pulmonary thromboembolism who had heterozygous 677C-T mutation in the methylenetetrahydrofolate reductase (MTHFR) enzyme. Mild hyperhomocysteinemia was also observed and serum B12, B6 and folate levels were normal. The patients were treated successfully with systemic anticoagulation. We suggest that MTHFR 677C-T mutation might be investigated in thromboembolic diseases when no other hereditary or acquired risk factors were found.

Özet

Hiperhomosisteineminin arteryel tıkayıcı damar hastalıkları ve venöz tromboz için önemli bir risk faktörü olduğu bilinmektedir. Bu yazıda, metilentetrahidrofolat redüktaz (MTHFR) enziminde heterozigot 677C-T mutasyonu bulunan pulmoner tromboembolili iki hasta sunmaktayız. Hastalarda ayrıca hafif hiperhomosisteinemi de gözlendi ve serum B12, B6 ve folik asit düzeyleri normal bulundu. Hastalar sistemik antikoagülasyonla başarılı bir şekilde tedavi edildi. Tromboembolik hastalıklarda herhangi bir edinsel ve kalıtsal risk faktörünün saptanamadığı durumlarda MTHFR 677C-T mutasyonunun araştırılmasını önermekteyiz.

🔖

Cite This Article

TÜLEK, B., SÜERDEM, M. (2010). Mild hyperhomocysteinemia and heterozygous methylenetetrahydrofolate reductase mutation associated with pulmonary thromboembolism. Solunum, Cilt: 12 - Sayı: 1, 52–55. https://ajindex.com/articles/314549

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (12)

  1. White RH. The epidemiology of venous thromboembolism. Circulation 2003;107:14-18
  2. Tsai AW, Cushman M, Rosamond WD, et al. Cardiovascular risk factors and venous thromboembolism incidence: the longitudinal investigation of thromboembolism etiology. Arch Intern Med 2002;162:1182-1189
  3. Heit JA, O’Fallon WM, Petterson TM, et al. Relative impact of risk factors for deep vein thrombosis and pulmonary embolism: a population based study. Arch Intern Med 2002;162:1245-1248
  4. Piazza G, Goldhaber SZ. Acute pulmonary embolism: Epidemiology and diagnosis. Circulation 2006;114:28-32
  5. Den Heijer M, Koster T, Blom HJ, et al. Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med 1996;334:759-762
  6. Jacques PF, Bostom AG, Williams RR, et al. Relation between folate status, a common mutation in methylene tetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996;93:7-9
  7. Pathare A, Alkindi S, Albalushi T, et al. Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis. Clin Lab Haemost 2004;26:143-146
  8. Alioglu B, Ozyurek E, Tarcan A, et al. Heterozygous methylenetetrahydrofolate reductase 677C-T gene mutation with mild hyperhomocysteinemia associated with intrauterine iliofemoral artery thrombosis. Blood Coagul Fibrinolysis 2006;17:495-498 9. Cakir O, Ayyıldız O, Goz M, et al. Myocardial infarction and venous thrombosis in a 42 year old woman with heterozygous methylenetetrahydrofolate reductase gene mutation, hyperhomocysteinemia, and protein C deficiency. Int J Cardiol 2007;117:e98-e100
  9. Rees MM, Rodgers GM. Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. Thromb Res 1993;71:337-1359
  10. Blom HJ, van der Molen EF. Pathobiochemical implications of hyperhomocysteinemia. Fibrinolysis 1994;8:86-87
  11. Amundsen T, Ueland PM, Waage A. Plasma homocysteine levels in patients deep venous thrombosis. Arterioscler Thromb Vasc Biol 1995;15:1321-1323
  12. Bezemer ID, Doggen CJ, Vos HL, et al. No association between the common MTHFR 677C-T polymorphism and venous thrombosis: results from the MEGA study. Arch Intern Med 2007;167:497-501.