6533b7cffe1ef96bd1258a6d

RESEARCH PRODUCT

"Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia."

subject

description

Congenital deficiency of plasma fibrinogen is a hereditary bleeding disorder with an autosomal recessive pattern of inheritance [1] and an estimated incidence of 1–2 per million in the general population [1]. Due to the rarity of the disorder, the available data on the incidence of bleeding episodes, prevalent clinical manifestations and treatment modalities are scarce [2-7]. Afibrinogenemia is sometimes associated with symptoms that are unusual in patients with defects of coagulation factors, such as thrombotic complications and miscarriages [8-12]. However, knowledge on the incidence and significance of these unusual symptoms is influenced by publication bias. Fresh frozen plasma, cryoprecipitate (cryo) and lyophilized fibrinogen concentrates are the main sources of fibrinogen for replacement therapy, but there is limited knowledge on optimal dosages and target plasma levels. Finally, there is little experience on the use of prophylactic replacement therapy. In order to fill these gaps of knowledge, we report here on the results of a questionnaire survey based upon the data obtained in 100 a‐ or hypofibrinogenemic patients.