Çiğdem GEREKLİOĞLU, ASLI KORUR, SÜHEYL ASMA, Soner SOLMAZ

Congenital Afibrinogenemia Diagnosed During Pregnancy

Konjenital afibrinojenemi otozomal resesif kalıtım özelliği gösteren nadir bir kanama diyatezi olup serum fibrinojeninin olmaması veya belirlenebilecek düzeyin altında çok düşük fibrinojen düzeyleri ile karakterizedir. Spontan kanama riski yaygınken, disfibrinojenemisi olan hastalar aynı zamanda tromboz riski de taşımaktadır. Bu yazıda gebeliğin 24. haftasında cillte yaygın ekimoz ve genel durum bozukluğu ile başvuran ve konjenital afibrinojenemi tanısı alan olgu sunulmuştur.

Gebelikte Tanı Alan Konjenital Afibrinojenemi Olgusu

Congenital afibrinogenemia is a rare hemorrhagic diathesis with autosomal recessive inheritance characterized by absence of fibrinogen or very low fibrinogen values below detectable levels. While spontaneous hemorrhage risk is common, the patients who have dysfibrinogenemia also carry the risk for thrombosis. In this paper, a patient who was admitted with widespread cutaneous ecchymosis and poor general condition and diagnosed with congenital afibrinogenemia at 24th gestational week is presented.

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