Diagnosis and treatment strategies of thrombophilic risk factors

Year 2010, , 125 - 133, 01.06.2010

Osman Yokuş Özlem Şahin Balçık Murat Albayrak

https://doi.org/10.5799/ahinjs.01.2010.02.0027

Abstract

Thrombophilia is defined as the general name for a group of genetic and acquired situations, arising from defects of hemostasis mechanism and generating tendency to thrombosis. Examples of the acquired risk factors that increase the tendency to thrombosis are venous catheters, sepsis, surgery, hyperlipidemia, congestive heart disease, increased lipoprotein a, old age, antiphospholipid syndrome, nephrotic syndrome, hyperviscosity, chronic myeloproliferative neoplasms, paroxysmal nocturnal hemoglobinuria, heparin induced thrombocytopenia, vasculitis, immobility, obesity, major surgery, trauma, burns, malignancy, pregnancy and oral contraceptive usage. Genetic tendency to venous thromboembolism in early ages, even without any known cause, is named as thrombophilia. Factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate reductase gene mutations, factor VIII elevation, protein C, protein S and antithrombin deficiency parameters are suggested for evaluation, in patient groups suspected of inherited thrombophilia. Detection of inherited thrombophilic factors in selected patient groups is a guide in developing treatment strategies and in establishing prognosis. Due to the genetic heterogeneities, each society should determine their thrombophilic risk pool. Thus, with the determination of the risk factors, unnecessary assessments will be prevented and a cost-effective approach can be developed.

Keywords

Thrombophilia, venous thromboembolism, Factor V Leiden gene mutation; Prothrombin G20210A gene mutation

Trombofilik risk faktörleri, takip ve tedavi stratejileri

Abstract

Trombofili, hemostaz mekanizmalarındaki bozukluktan kaynaklanan ve tromboza eğilim oluşturan bir grup kalıtsal ve kazanılmış durumun genel adı olarak tanımlanmaktadır. Tromboza eğilimi artırdığı bilinen kazanılmış risk faktörleri olarak santral venöz kataterler, sepsis, cerrahi, hiperlipidemi, konjestif kalp hastalığı, artmış lipoprotein a, yaşlılık, antifosfolipid sendrom, nefrotik sendrom, hiperviskozite, kronik miyeloproliferatif neoplazmlar, paroksismal nokturnal hemoglobinüri, heparine bağlı trombositopeni, vaskülit, immobilite, obesite, büyük cerrahi girişim, travma, yanık, malignite, gebelik ve oral kontraseptif kullanımı sayılabilir. Genç yaşta bilinen bir neden olmaksızın venöz tromboemboliye genetik yatkınlık, kalıtsal trombofili olarak tanımlanmaktadır. Faktör V Leiden, protrombin G20210A, metilentetrahidrofolat redüktaz gen mutasyonları, faktör VIII yüksekliği, protein C, protein S and antitrombin eksikliği parametrelerinin kalıtsal trombofili düşünülen hasta gruplarında araştırılması önerilmektedir. Kalıtsal trombofilik etkenlerin seçilmiş hasta gruplarında saptanmaları tedavi stratejileri geliştirmede ve prognozda yol gösterici olmaktadır. Her toplum genetik heterojenite nedeni ile kendi trombofilik risk havuzunu belirlemelidir. Bu şekilde trombofilik risk faktörlerinin belirlenmesi gereksiz tetkik istenmesini engelleyecek ve maliyet-etkin bir yaklaşım geliştirilebilecektir..

Keywords

Trombofili, venöz tromboembolizm, Faktör V Leiden gen mutasyonu, Protrombin G20210A gen mutasyonu

References

• Deitcher SR, Rodgers GM. Thrombosis and Antithrombotic Therapy. In: Greer JP, Foerster J, Lukens JN, et al, eds. Wintrobe’s Clinical Hematology, 11 Th ed. Philadelphia: Lippincott Williams and Wilkins; 2004. P. 1713-28.
• Yehezkely-Schildkraut V, Kutai M, Hugeirat Y, et al. Thrombophilia: a risk factor for cerebral palsy? Isr Med Assoc J 2005;7:808–11.
• Lawson SE, Butler D, Enayat MS, Williams MD. Congenital thrombophilia and thrombosis: a study in a single centre: Arch Dis Child. 1999; 81:176-8.
• Bauer K. Hypercoagulable states. Hematology 2005;10 (Suppl 1):39-42.
• Sucak G, Haznedar R. Trombofili. Türkiye Klinikleri Cerrahi Dergisi 2000;5:59–64.
• Schved JF. Definition of thrombophilia. Ann Med Interne (Paris). 2003;154:279–82.
• Oymak S, Ünal A, Çetin M, Gülmez İ, Demir R, Özesmi M. Aktive Protein C rezistansına bağlı ailevi trombofili. Erciyes Tıp Dergisi 1998;20:70–4.
• Pathare A, Alkindi S, Albalushi T, Bayoumi R, Dennison D, Muralitharan S. Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis. Clin Lab Haematol 2004;26:143–6.
• Bertina RM. Elevated clotting factor levels and venous thrombosis. Pathophysiol Haemost Thromb 2003;33:395–400.
• Bobrow RS. Excess factor VIII: a common cause of hypercoagulability. J Am Board Fam Pract 2005;8:147–9.
• Siegemund A, Petros S, Siegemund T, Scholz U, Seyfarth HJ, Engelmann L. The endogenous thrombin potential and high levels of coagulation factor VIII, factor IX and factor XI. Blood Coagul Fibrinolysis 2004;15:241–4.
• Arıcan O, Okan, Aycan S, Kozan O. Primer antifosfolipid sendromlu genç kadın hastada miyokard infarktüsü. MNKardiyoloji Dergisi 2004;11:221–3.
• Poli D, Gensini GF. Antiphospholipid syndrome and venous thromboembolism: the role of congenital thrombophilia. Ann Ital Med Int 2005;20:218–23.
• de Groot PG, Lutters B, Derksen RH, Lisman T, Meijers JC, Rosendaal FR. Lupus anticoagulants and the risk of a first episode of deep venous thrombosis. J Thromb Haemost 2005;3:1993–7.
• Tripodi A. Issues concerning the laboratory investigation of inherited thrombophilia. Mol Diagn 2005;9:181–6.
• Camargo EC, Massaro AR, Bacheschi LA, et al. Ethnic differences in cerebral venous thrombosis. Cerebrovasc Dis 2005;19:147–51.
• Wu O, Robertson L, Twaddle S, et al. Screening for thrombophilia in high-risk situations: systematic review and costeffectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study. Health Technol Assess 2006;10:1–110.
• Blickstein D. Screening for thrombophilia. Obstet Gynecol Clin North Am 2006;33:389–95.
• Pottier P, Cormier G, Truchaud F, Planchon B. Efficiency of systematic thrombophilia screening in idiopathic venous throm-bosis: a prospective study in internal medicine. Clin Appl Thromb Hemost 2005;11:243–51.
• Beyan C. Trombofilili hastada tanısal yaklaşım. Turkiye Klinikleri J Int Med Sci 2005;1:71–81.
• Bombeli T, Basic A, Fehr J. Prevalence of hereditary thrombophilia in patients with thrombosis in different venous systems. Am J Hematol 2002;70:126–32.
• Fegan CD. Central retinal vein occlusion and thrombophilia. Eye (Lond). 2002;16:98–106.
• Hankey GJ, Eikelboom JW, van Bockxmeer FM, Lofthouse E, Staples N, Baker RI. Inherited thrombophilia in ischemic stroke and its pathogenic subtypes. Stroke 2001;32:1793–9.
• Cantu C, Alonso E, Jara A, et al. Hyperhomocysteinemia, low folate and vitamin B12 concentrations, and methylene tetrahy-drofolate reductase mutation in cerebral venous thrombosis. Stroke 2004;35:1790–4.
• Marcucci R, Bertini L, Giusti B, et al. Thrombophilic risk factors in patients with central retinal vein occlusion. Thromb Haemost 2001;86:772–6.
• Weger M, Renner W, Steinbrugger I, et al. Role of thrombophilic gene polymorphisms in branch retinal vein occlusion. Oph-thalmology 2005;112:1910-5.
• Gathof BS, Picker SM, Rojo J. Epidemiology, etiology and diagnosis of venous thrombosis. Eur J Med Res 2004;9:95– 103.
• Ellis MH, Manor Y, Witz M. Risk factors and management of patients with upper limb deep vein thrombosis. Chest 2000;117:43–6.
• Hendler MF, Meschengieser SS, Blanco AN, Alberto MF, et al. Primary upper-extremity deep vein thrombosis: high prevalence of thrombophilic defects. Am J Hematol 2004;76:330–7.
• Bayraktar Y, Harmanci O. Etiology and consequences of thrombosis in abdominal vessels. World J Gastroenterol 2006;12:1165–74.
• Robertson L, Wu O, Langhorne P, et al. Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) Study. Thrombophilia in pregnancy: a systematic review. Br J Haematol 2006;132:171–96.
• Böhm G, Al-Khaffaf H. Thrombophilia and arterial disease. An up-to-date review of the literature for the vascular surgeon. Int Angiol 2003;22:116–24.
• Kyrle PA. The optimal duration of secondary thromboprophylaxis in patients with venous thromboembolism. The importance of thrombophilia screening. Wien Med Wochenschr 2005;155):17-21.
• Tsanadis G, Vartholomatos G, Korkontzelos I, Avgoustatos F, et al. Polycystic ovarian syndrome and thrombophilia. Hum Reprod 2002;17:314–9.
• Kafkas S, Kadıköylü G. Gebelik ve kalıtsal trombofili. ADÜ Tıp Fakültesi Dergisi 2005;6:43–50.
• Bauer KA. Role of thrombophilia in deciding on the duration of anticoagulation. Semin Thromb Hemost 2004;30:633–7.
• Lawson SE, Butler D, Enayat MS, Williams MD. Congenital thrombophilia and thrombosis: a study in a single centre. Arch Dis Child 1999;81:176–8.
• Greer IA. Venous thromboembolism and anticoagulant therapy in pregnancy. Gend Med 2005;2 Suppl A:S10–7.