Memnune Sena ULU, Sinan KAZAN, Saliha Handan YILDIZ, Çiğdem ÖZER GÖKASLAN

PULMONER TROMBOEMBOLİ: KALITSAL TROMBOFİLİ ve ÜÇ KUŞAKTA FARKLI GENETİK FAKTÖRLERiN DEĞERLENDİRİLMESİ

PULMONER TROMBOEMBOLİ: KALITSAL TROMBOFİLİ ve ÜÇ KUŞAKTA FARKLI GENETİK FAKTÖRLERiN DEĞERLENDİRİLMESİ Özet: Derin ven trombozu ve pulmoner tromboemboli aynı hastalığın farklı klinik yansımalarıdır. Bu makalede; kronik hastalığı ve ilaç kullanımı olmayan üç kuşakta akraba ilişkisi olan venöz tromboemboli tanısı alan hastaların klinik bulguları ve kalıtsal trombofili sonuçları tartışılmıştır. Alt extermitede şişlik olmadan ağrı ile başvuran hastalarda Derin ven trombozunun göz önünde bulundurulmasının ve DVT saptanan hastalarda, ek yakınmaları ve risk faktörleri bulunmasa dahi, rutin olarak arter kan gazı analizi ve gerekirse pulmoner tromboemboli açısından görüntüleme yöntemleri ile değerlendirilmesinin önemi akılda tutulmalıdır. Bu makalede; venöz tromboemboli, kalıtsal trombofili, gen polimorfizmlerinin; hiçbir kronik hastalığı, bilinen risk faktörü veya ilaç kullanımı olmayıp, DVT ve PTE saptanan, üç kuşakta akrabalığı bulunan, dört adet olgu ve literatür eşliğinde tartışılması amaçlanmıştır Anahtar kelimeler: Venöz tromboemboli, pulmoner tromboemboli, kalıtsal trombofili, gen polimorfizmleri Abstract: Deep vein thrombosis and pulmonary embolism are different reflections of the same disease. In this article, clinical findings and inherited thrombophilia results of kin patients with the diagnosis of venous thromboembolism in three generations were discussed. Deep vein thrombosis should be considered in patients presenting with pain without swelling in the lower extemite and the significance of evaluation with routine arterial blood gas analysis and if necessary, imaging methods in terms of pulmonary thromboembolism should be kept in mind in patients with deep vein thrombosis even in the absence of additional symptoms and risk factors. In this article, It is aimed to discuss, venous thromboembolism, hereditary thrombophilia, gene polymorphisms with four cases in three generations, who had DVT and PTE, without any chronic disease, known risk factor or drug use, in the light of the literature. Keywords: Venous thromboembolism, hereditary thrombophilia, gene polymorphisms, pulmonary embolism

Anahtar Kelimeler:

Venöz tromboemboli, pulmoner tromboemboli, kalıtsal trombofili

PULMONER TROMBOEMBOLISM; HEREDITARY TROMBOFILIA AND EVALUATION OF DIFFERENT GENETIC FACTORS IN THREE GENERATIONS

Deep vein thrombosis (DVT) and pulmonary embolism (PTE) are different reflections of the same disease. DVT should be considered in patients presenting with pain without swelling in the lower extremities and the significance of evaluation with routine arterial blood gas analysis and if necessary, imaging methods in terms of PTE should be kept in mind in patients with deep vein thrombosis even in the absence of additional symptoms and risk factors. In this article, it is aimed to discuss, venous thromboembolism, hereditary thrombophilia, gene polymorphisms with four cases in three generations, who had DVT and PTE, without any chronic disease, known risk factor or drug use, in the light of the literature.

Keywords:

Venous thromboembolism, hereditary thrombophilia,

PDF

___

KAYNAKLAR: 1. Anderson FA Jr, Wheeler HB, Goldberg RJ, Hosmer DW, Patwardhan NA, Jovanovic B, et al. A population-based perspective of the hospital incidence and case-fatality rates of deep vein thrombosis and pulmonary embolism. The Worcester study. Arch Intern Med 1991; 151: 933–8. 2. Carrier M, Le Gal G, Wells PS, Rodger MA. Systematic review: case-fatality rates of recurrent venous thromboembolism and major bleeding events among patients treated for venous thromboembolism. Ann Intern Med 2010; 152: 578–89. 3. Torbicki A, Van Beek EJR, Charbonnier B. Guidelines on diagnosis and management of acute pulmonary embolism. Eur Heart J 2000; 21: 1301-36. 4. Tapson VF. Acute pulmonary embolism. N Engl J Med 2008; 358: 1037-52. 5. Kokturk N, Oguzulgen IK, Demir N, Demirel K, Ekim N. Differences in clinical presentation of pulmonary embolism in older vs younger patients. Circ J 2005; 69: 981-6. 6. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A commongeneticvariation in the 3’-untranslated region of theprothrombin gene is associated with elevated plasma prothrombin levels and an increase in venousthrombosis. Blood; 88:3698-703, (1996) 7. Wicki J, Perrier A, Perneger TV, Bounameaux H, Junod AF. Predicting adverse outcomein patients with acute pulmonary embolism: a risk score. Thromb Haemost 2000; 84: 548-52. 8. Rosendaal FR. Risk factors for venous thrombotic disease. Thromb Haemost 1999; 82: 610-9. 9. Tsai AW, Cushman M, Rosamond WD, Heckbert SR, Polak JF, Folsom AR. Cardiovascular risk factors and venous thromboembolism incidence: the longitudinal investigation of thromboembolism etiology.Arch Intern Med 2002;162:1182-9. 10. Stein PD, Hull RD, Kayali F, Ghali WA, Alshab AK, Olson RE. Venous thromboembolism according to age; impact of an aging population. Arch Intern Med. 2004;164(20):2260–2266. 11. Raghid Kreidy, Pascale Salameh, Mirna Waked. Lower extremity venous thrombosis in patients younger than 50 years of age. Vasc Health Risk Manag. 2012; 8: 161–167 12. Giofrè MC, Napoli F, La Rosa D, Caruso A, Laganà N, Orlando Settembrini L, et al. Recurrent Thrombosis: A Case of Hereditary Thromboembolism. Am J Case Rep. 2017 Nov 2;18:1157-1159. 13. Montagnana M, Lippi G, Danese E. An Overview of Thrombophilia and Associated Laboratory Testing. Methods Mol Biol. 2017;1646:113-135. 14. Hotoleanu C. Genetic Risk Factors in Venous Thromboembolism. Adv Exp Med Biol.2017;906:253-272. 15. Djordjevic V, Mitic G, Pruner I, Kovac M, Radojkovic D. Are thrombophilia more multifactorial than we thought: report of mosaicism for FII G20210A and novel FII T20061C gene variants. J Thromb Haemost. 2012 Feb;10(2):301-3.