Aile Hekimliği Pratiğinde Trombofili ve Tarama

Yıl 2023, Cilt: 15 Sayı: 3, 277 - 281, 20.10.2023

Nevena Ivanova

https://doi.org/10.18521/ktd.1355206

Öz

Trombofili, bireyleri trombotik olaylara yatkın hale getiren bir grup kalıtsal veya edinilmiş bozukluğu kapsar. Bu bireylerin tanımlanması, uygun yönetim stratejilerine rehberlik etmek ve komplikasyon riskini ve buna bağlı olarak artan sağlık hizmeti maliyetleri ve mortaliteyi azaltmak için önemlidir. Derin ven trombozu (DVT) ve pulmoner emboliyi (PE) kapsayan venöz tromboembolizm (VTE), önemli morbidite ve mortalite oranları nedeniyle önemli bir küresel sağlık sorununu temsil etmektedir. Pratisyen hekimler (GP'ler), faaliyetlerini sağlık sisteminin girişinde - birinci basamakta - yerine getirdiklerinden, hastaların trombofili açısından değerlendirilmesinde ve ilk taranmasında hayati bir rol oynamaktadır. Ayrıca yenidoğanlardan hamilelere ve yetişkinlere kadar heterojen bir hasta grubuna, risk faktörlerini ve altta yatan hastalıkları iyi bilerek hizmet veriyorlar. Pratisyen hekimlikte genellikle kalıcı bir doktor-hasta ilişkisi kurulur ve tıbbi geçmiş belgelenir ve iyi bilinir; bu da pratisyen hekimlikte başlatılan taramanın büyük bir başarıyla gerçekleştirilmesini mümkün kılar. Trombofiliye yol açan en yaygın genetik bozukluklar Faktör V Leiden mutasyonu, Protrombin gen mutasyonu, Protein C eksikliği, Protein S eksikliği, Antitrombin eksikliğidir. Oral kontraseptif kullanımı, hormon replasman tedavisi (HRT), hamilelik, doğum sonrası dönem ve malignite dahil olmak üzere birden fazla kazanılmış durum, VTE gelişimine yatkınlığın artmasıyla da ilişkilendirilmiştir. Genel pratikte trombofili taraması, trombotik olay riski yüksek olan bireyleri belirlemek için açık endikasyonlara göre yönlendirilmelidir.

Anahtar Kelimeler

Trombofili, Kalıtsal, Edinsel, Tromboz, Tarama, Aile Hekimliği

Thrombophilia and Screening in Family Medicine Practice

Öz

Thrombophilia encompasses a group of inherited or acquired disorders that predispose individuals to thrombotic events. The identification of these individuals is essential to guide appropriate management strategies and reduce the risk of complications and the associated increased healthcare costs and mortality. Venous thromboembolism (VTE), encompassing deep vein thrombosis (DVT) and pulmonary embolism (PE), represents a major global health concern due to its substantial morbidity and mortality rates. General practitioners (GPs) play a vital role in the assessment and initial screening of patients for thrombophilia, as they perform their activities at the entrance of the health care system - in primary care. In addition, they serve a heterogeneous group of patients - from newborns to pregnant women and adults, knowing their risk factors and underlying diseases well. In general practice, an enduring doctor-patient relationship is usually established and the medical history is documented and well known, making it possible to carry out screening initiated in general practice with great success. The most common genetic defects that lead to thrombophilia are Factor V Leiden mutation, Prothrombin gene mutation, Protein C deficiency, Protein S deficiency, Antithrombin deficiency. Multiple acquired conditions have also been linked with an increased predisposition towards VTE development, including oral contraceptive use, hormone replacement therapy (HRT), pregnancy, postpartum period and malignancy. Thrombophilia screening in general practice should be guided by clear indications to identify individuals at increased risk of thrombotic events.

Anahtar Kelimeler

Thrombophilia, Hedediter, Acquired, Thrombosis, Screening, Family medicine

Kaynakça

• 1. Heit JA, Silverstein MD, Mohr DN, et al. Risk factors for deep vein thrombosis and pulmonary embolism: a population‐based case–control study. Arch Intern Med 2000;160(6):809-15.
• 2. Hoppe C, Matsunaga A. Pediatric Thrombosis. Pediatric Clin of North America. 2002;49:1257–1283. doi: 10.1016/S0031-3955(02)00092-5.
• 3. Lane DA, Mannucci PM, Bauer KA, et al. Inherited thrombophilia: part 1. Thromb Haemost. 1996;76:651.
• 4. Khan S, Dickerman JD. Hereditary thrombophilia. Thromb J. 2006;4:15. Published 2006 Sep 12. doi:10.1186/1477-9560-4-15
• 5. Esmon CT, Protein C. The regulation of natural anticoagulant pathways. Science. 1987;235:1348.
• 6. Heijboer H, Brandjes DP, Buller HR, Sturk A, ten Cate JW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med. 323:1512–6. 1990
• 7. Feero WG. Genetic Thrombophilia. Primary Care. 2004;31:685–709.
• 8. Chalmers EA. Heritable thrombophilia and childhood thrombosis. Blood Rev. 2001;15:181–9. doi:
• 9. Ridker PM, Miletich JP, Hennekens CH, Buring JE. Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA. 277:1305–7.
• 10. Koster T, Rosendaal FR, de Ronde H, Briet E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503–6.
• 11. 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.
• 12. Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: A database of mutations, 1995 update. Thromb Haemost. 1995;73:876.
• 13. Manco-Johnson MJ, Marlar RA, Jacobson LJ, Hays T, Warady BA. Severe protein C deficiency in newborn infants. J Pediatr. 1988;113:359–63.
• 14. Chan YC, Valenti D, Mansfield AO, Stansby G. Warfarin induced skin necrosis. Br J Surg. 2000;87:266–72.
• 15. Greer IA. Inherited thrombophilia and venous thromboembolism. Best Pract Res Clin Obstet Gynaecol. 2003;17:413–25.
• 16. Lensen RP, Rosendaal FR, Koster T, Allaart CF, de Ronde H, Vandenbroucke JP, Reitsma PH, Bertina RM. Apparent different thrombotic tendency in patients with factor V Leiden and protein C deficiency due to selection of patients. Blood. 1996;88:4205–8.
• 17. Tait RC, Walker ID, Perry DJ, Islam SI, Daly ME, McCall F, Conkie JA, Carrell RW. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol. 1994;87:106–12.
• 18. Simmonds RE, Ireland H, Lane DA, Zoller B, Garcia de Frutos P, Dahlback B. Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect. Ann Intern Med. 1998;128:8–14.
• 19. Thaler E, Lechner K. Antithrombin III deficiency and thromboembolism. In: Prentice CRM, editor. Clinics in Haematology. Vol. 10. Saunders London; 1981. p. 369.
• 20. Martinelli I, Mannucci PM, De Stefano V, Taioli E, Rossi V, Crosti F, Paciaroni K, Leone G. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood. 92:2353–8. 1998 Oct 1.
• 21. Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010;149(2):209-20.
• 22. Kujovich JL. Thrombophilia and pregnancy complications. Am J Obstet Gynecol. 2004;191(2):412-24.
• 23. Baglin T. Thrombophilia. Clin Med (Lond). 2017;17(4):349-352.
• 24. Lijfering WM, Middeldorp S. Screening for thrombophilia: an update. Thromb Res. 2017;155:30-5.
• 25. Greaves M, Cohen H, MacHin SJ, et al. Guidelines on the investigation and management of the antiphospholipid syndrome. Br J Haematol. 2012;157(1):47-58.
• 26. Bates SM, Greer IA, Middeldorp S, et al. VTE, thrombophilia, antithrombotic therapy, and pregnancy: antithrombotic therapy and prevention of thrombosis, 9th ed: American College of Chest Physicians evidence-based clinical practice guidelines. Chest. 2012;141(2 Suppl):e691S-e736S.
• 27. Middeldorp S. How I treat pregnancy-related venous thromboembolism. Blood. 2011;118(20):5394-5400.