Retinal Ven Tıkanıklıklarında Herediter Trombofilinin Rolü

Amaç: Çalışmamızda retina ven tıkanıklıkları (RVT) ile koagülasyon bozukluklarına yol açan herediter trombofili faktörleri arasındaki ilişkiyi incelemeyi amaçladık. Materyal ve Metod: Çalışmamıza 45 hasta RVT grubu olarak, 42 sağlıklı olgu kontrol grubu olarak dahil edildi. Takip süresi ortalama 15.2±5.5 aydı. Her 2 grupta Faktör V Leiden (FVL), protrombin G20210A ve metilentetrahidrofolat redüktaz (MTHFR) enzim mutasyonu, antitrombin III, protein C ve S aktivitesi, fibrinojen, faktör VII ve VIII seviyeleri, Ddimer, aktive parsiel tromboplastin zamanı, protrombin zamanı/INR, CBC, ESR ve tam kan biyokimyası incelemeleri yapıldı. Bulgular: RVT grubunda 4 (%9), kontrol grubunda ise 1 (%2.4) olguda FVL heterozigot mutasyonu tespit edildi. Her 2 grupta da homozigot FVL mutasyonu ve PT G20210A mutasyonu tespit edilmedi. RVT grubunda 26 (%57.8) hastada heterozigot, 4 olguda (%8.9) homozigot MTHFR C677T mutasyonu tespit edildi. Kontrol grubunda ise 14 (%33.3) olguda heterozigot ve 4(%9.5) olguda ise homozigot MTHFR C677T mutasyonu vardı. Gruplar arasında MTHFR C677T mutasyonu açısından istatistiksel olarak anlamlı fark vardı (p=0,032). RVT grubunda serum trigliserid, glukoz , fibrinojen ve ESR seviyeleri kontrol grubuna göre belirgin olarak yüksek bulundu. Sonuç: RVT olan hastaların etyolojisini araştırırken tüm ilişkili sistemik ve oftalmolojik muayenenin yanısıra hiperkoagülasyon değerlendirmesi için hematolojik testlerin yapılması gerektiğini düşünmekteyiz.

Anahtar Kelimeler:

Kalıtsal trombofili, Retina ven tıkanıklığı

Role of the Hereditary Thrombophilic Abnormalities in Retinal Vein Occlusions

Purpose: The aim of our study was to evaluate the relation between hereditary thrombophilic factors leading to coagulation disorders and retinal vein occlusion (RVO). Material and Methods: A total of 45 consecutive patients with RVO group and 42 healty subjects (Control group) were enrolled. The mean follow-up period was 15.2±5.5 months. The following investigations were performed in both groups: Factor V Leiden (FVL), prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) enzyme mutations, antithrombin III, protein C and S activities, fibrinogen, factor VII and VIII levels, D-dimer, activated partial thromboplastin time and prothrombin time/INR, complete blood count, ESR and blood biochemistry. Results: Factor V leiden heterozygote mutation was found in four (9%) patients in RVO and one (2.4%) in Control groups. Homozygote FVL mutation and PT G20210A mutation were not found in neither of the groups. In the RVO group, 26 patients (57.8%) had MTHFR C677T heterozygote mutation and four (8.9%) had homozygote mutation. In the Control group 14 (33.3%) patients had MTHFR C677T heterozygote mutation and four (9.5%) had homozygote mutation. There was a significant difference in MTHFR C677T genotype distribution between the 2 groups (p=0,032). The serum triglyceride, glucose, fibrinogen and ESR levels were significantly higher in patients compared to the controls Conclusion: We believe that, in addition to all related systemic and ophthalmological investigations, hematological screening tests to detect hypercoagulation should be performed while investigating the etiology in patients with RVO.

PDF

___

Recchia FM, Brown GC. Systemic disorders associated with retinal vascular occlusion. Curr Opin Ophthalmol. 2000;11:462-7.
Salomon O, Moissiev J, Rosenberg N, Vidne O, Yassur I, Zivelin A, et al. Analysis of genetic polymorphisms related to thrombosis and other risk factors in patients with retinal vascular occlusion. Blood Coagul Fibrinolysis. 1998;9:617-22.
Albisinni R, Coppola A, Loffredo M, Cerbone AM, Di Minno G, Greco GM. Retinal vein occlusion and inherited conditions predisposing to thrombophilia. Thromb Haemos. 1998;80:702-3.
Backhouse O, Parapia L, Mahomed I, Lee D. Familial thrombophilia and retinal vein occlusion. Eye. 2000;14:13-7.
The Eye Disease Case-Control Study Group. Risk factors for central retinal vein occlusion. Arch Ophthalmol. 1996;114:545-54.
The Eye Disease Case-Control Study Group. Risk factors for branch retinal vein occlusion. Am J Ophthalmol. 1993;116:286-96.
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-7.
Bowen DJ, Bowley S, John M, Collins PW. Factor V Leiden (G1691A), the prothrombin 3´-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): a single genetic test genotypes all three loci. Determination of frequencies in the S. Wales population of the UK. Thromb Haemost. 1998;79:949-54.
Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-703.
Rosendaal FR, Doggen CJ, Zivelin A, Arruda VR, Aiach M, Siscovick DS, et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost. 1998;79:706-8.
Stein JH, McBride PE. Hyperhomocysteinaemia and atherosclerotic disease. Arch Intern Med. 1998;158:1301-6.
Cahill M, Karabatzaki M, Donoghue C, Meleady R, Mynett-Johnson LA, Mooney D, et al. Thermolabile MTHFR genotype and retinal vascular occlusive disease. Br J Ophthalmol. 2001;85:88-90.
Haghighatgoo A, Valles-Ayoub Y, Saechao C, Esfandiarifard S, Martinez SL, Pietruszka M, et al. MTHFR C677T genotype frequency in patients of Middle Eastern descent as determined by real-time PCR and melting curve analysis. Genet Test Mol Biomarkers. 2009;13:471-6.
Khandanpour N, Willis G, Meyer FJ, Armon MP, Loke YK, Wright AJ, et al. Peripheral arterial disease and methylenetetrahydrofolate reductase (MTHFR) C677T mutations: A case-control study and meta- analysis. J Vasc Surg. 2009;49:711-8.
Balta G, Gürgey A. Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkısh patıents wıth thrombosis. Turk J Pediatr. 1999;41:197-9.
Lowenstein A, Goldstein M, Winder A, Lazar M, Eldor A. Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation. Ophthalmology. 1999;106:1817-20.
Hayreh SS, Zimmerman B, McCarthy MJ, Podhajsky P. Systemic disease associated with various types of retinal vein occlusion. Am J Ophthalmol. 2001;131:61-77.