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

Yıl 2020, Cilt: 21 Sayı: 1, 136 - 140, 20.03.2020

Sena Ulu , Saliha Handan Yıldız , Çiğdem Özer Gökaslan , Sevinç Sarınç Ulaşlı , Sinan Kazan

https://doi.org/10.18229/kocatepetip.670800

Öz

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.

Anahtar Kelimeler

Venous thromboembolism, hereditary thrombophilia

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

Öz

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

Kaynakça

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