Nadir görülen birliktelik: Kombine faktör V ve VIII eksikliği

Year 2014, , - , 01.06.2014

Başak Ünver Koluman Murat Albayrak Harika Okutan

https://doi.org/10.5799/ahinjs.01.2014.02.0413

Abstract

Kombine faktör V (FV) ve faktör VIII (FVIII) eksikliği, nadir görülen ve hafif-orta şiddette kanama ile karakterize faktör eksikliklerinden birisidir. Otozomal resesif geçiş gösteren genetik bir bozukluktur. Normal trombosit düzeyi; hem PT, hem aPTT\'de uzama ile karakterizedir. Tedavi kanama kontrolunun sağlanması şeklinde olur. Bunun için taze donmuş plazma (TDP), desmopressin, spesifik FVIII konsantreleri (plazma kökenli veya rekombinant) kullanılabilir. Genel popülasyonda oldukça nadir görülmesi nedeniyle, kombine FV ve FVIII eksikliği olan bir olguyu sunduk.

Keywords

Nadir faktör eksikliği, tedavi, taze donmuş plazma

A rare combination: Combined factor V and factor VIII deficiency

Abstract

Combined factor V (FV) and factor VIII (FVIII) deficiency is a rare factor deficiency with mild-moderate hemorrhage. It is an autosomal recessive coagulation disorder . Prolonged prothrombin time and partial thromboplastic time is characteristic, platelet count remains in normal ranges. The main stay of treatment is to control the hemorrhage. Fresh frozen plasma, desmopressin, specific FVIII concentrates (plasma- derived or recombinant) may be used. Being very rare in the general population, we present a case with a combined FV and FVIII deficiency. J Clin Exp Invest 2014; 5 (2): 323-325

Keywords

Rare bleeding disorder, treatment, fresh frozen plasma

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