Ahmet Selim YURDAKUL, Taci Nevin HOCA, Filiz ÇİMEN, Şükran ATİKCAN, Aslıhan ÇAKALOĞLU

Herediter trombofili sebebiyle rekürren pulmoner embolizm (Olgu sunumu)

Pulmoner embolizm sık olarak görülebilen fakat güç teşhis edilen, mortalitesi yüksek olan bir hastalıktır. Pulmoner embolizm için tanımlanan birçok risk faktörü bulunmaktadır. Ancak herediter faktörler, özellikle tekrarlayan venöz tromboembolili olgular için önemli bir risk faktörüdür. Daha önce üç kez pulmoner embolizm tanısı konularak antikoagülan tedavi uygulanan olgumuzda, tekrarlayan pulmoner embolizm nedeni ile genetik risk faktörleri araştırıldı. Vakada homozigot faktör V Leiden mutasyonu, protein S eksikliği ve hiperhornosisteinemi tespit edildi. Ayrıca yapılan aile taramasında olgunun üç kız çocuğunda protein S, protein C eksikliği ue faktör V Leiden mutasyonu tespit edildi. Tekrarlayan pulmoner embolizm ve birden fazla genetik risk faktörü olan olgumuza yaşamı süresince antikoagülan tedavi verilmesi planlandı. Tekrarlayan pulmoner embolizm, hayatı tehdit etmesi nedeniyle son derece önemlidir. Trombozise eğilimde artışa neden olan genetik risk faktörlerinin araştırılması hem hastalar hem de aileleri için çok önemlidir.

Recurrent pulmonary embolism secondary to hereditary thrombophilia (Case report)

Pulmonary embolism is seen commonly but diagnosed difficulty and has high mortality. There are too many risk factors that have been described for pulmonary embolism: However, the hereditary factors are important risk factors for the cases especially with recurrent pulmonary embolism. In our case who had been diagnosed as pulmonary embolism three times before and treated with anticoagulants, because of the recurrent pulmonary embolism, the genetic risk factors were investigated. Homozygous factor V Leiden mutation, deficiency of protein S and hyperhomocysteinaemia were determined in our case. In addition, in the investigation of the family, protein S, protein C and factor V Leiden mutation were determined in all three daughters of our case. Since our patient has recurrent pulmonary embolism and has more than one genetic risk factors, anticoagulant treatment was planned for lifelong. Recurrent thromboembolism is too important because ofthreating the life. Identification of the genetic risk factors that result in increased tendency to thrombosis has important implications for the patients and their families.

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