Hülya Sayılan ŞEN, Zafer SALCIOĞLU, Arzu AKÇAY, Deniz TUĞCU, Gönül AYDOĞAN, Ferhan AKICI, Nuray Aktay AYAZ, zafer BAŞLAR

Yineleyen merkezi sinir sistemi kanamaları bulunan konjenital faktor V eksikliği olgumuzda uzun sureli sekonder profilaksi

Faktör V (labil faktör) eksikliği, nadir görülen, otosomal resesif geçiş gösteren ve sıklıkla mukoza, cilt kanamalarıyla birlikte seyreden konjenital bir hastalıktır. Yenidoğan döneminde merkezi sinir sistemi kanamaları bildirilmiştir. Spesifik faktör V konsantresi bulunmaması nedeniyle kanama tedavilerinde taze donmuş plazma, trombosit süspansiyonu, protrombin kompleks konsantresi ve aktive rekombinant faktör VII kullanılmaktadır. Literatürde merkezi sinir sistemi kanamalarından sonra profilaksi uygulandığına ilişkin iki olgu bildirilmiştir. Taze donmuş plazma ile profilaksi etkili bulunmuştur. Olgu sunumumuzda yineleyen merkezi sinir sistemi kanamaları bulunan konjenital faktör V eksikliği olgusunda (F:C %0,6) yirmi iki ay süreyle uygulanan taze donmuş plazma profilaksi deneyimi paylaşılmaktadır.

Long term secondary prophylaxis in a patient with congenital factor V deficiency and recurrent central nervous system bleedings

Factor V (labile factor) deficiency is a rare congenital autosomal recessive inherited disease, frequently accompanied by mucosal and skin bleedings. Central nervous system hemorrhage in newborn period have been reported. Due to absence of spesific factor V concentrate, fresh frozen plasma, platelets, prothrombin complex concentrate and recombinant activated factor VII are used for the treatment of bleedings. Two cases have been reported whom applied prophylaxis after central nervous system bleeding, in the literature. Prophylaxis with fresh frozen plasma has been found effective. In our article, we shared experience of prophylaxis with fresh frozen plasma for twenty-two months in a patient who has congenital factor V deficiency and recurrent central nervous system bleeding.

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1. Bolton-Maggs PHB, Perry DJ, Chalmers EA, et al. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004;10:1-36.
2. Salooja N, Martin P, Khair K, Liesner R, Hann I. Severe factor V deficiency and neonatal intracranial haemorrhage: a case report. Haemophilia 2000;6:44-6.
3. Chingale A, Eisenhut M, Gadiraju A, Liesner RA. Neonatal presentation of factor V deficiency: a case report. BMC Pediatr 2007;21:7-8.
4. Lak M, Sharifian R, Peyvandi F, Manucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol. 1998;103:1067- 1069.
5. Acharya SS, Coughlin A, Dimichele DM. North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004;2:248-56.
6. Siboni SM, Zanon E, Sottilotta G, Consonni D, Castaman G, Mikovic D et al. Central nervous system bleeding in patients with rare bleeding disorders. Haemophilia 2012;18:34-8.
7. Fışkın T, Balkan C, Celkan T, Kılınç Y, Türker M, Timur Ç, et al. Rare Coagulation Disorders: A retrospective Analysis of 156 Patients in Turkey. Turkish J Hematol 2012;29:48-54.