Abstract Number: PB2189
Meeting: ISTH 2020 Congress
Background: Afibrinogenemia is a rare dyscrasia characterized by a constitutional deficit in fibrinogen. About 150 families have been reported around the world since the first German observation published by Rabe in 1920. Hemorrhagic manifestations vary, ranging from a minimal or moderate bleeding to cataclysmic hemorrhage. Afibrinogenemia may be paradoxically associated with venous and arterial thrombotic complications. These complications could occur spontaneously or after a massive substitution in fibrinogen concentrate or in very rare cases associated with a biological risk factor for thrombosis.
Aims: Interest to complete the hemostasis assessment to identify the associated deficits.
Methods: We report here the case of two brothers known for severe fibrinogen deficiency since childhood. In adulthood, one of the two brothers had severe deep vein thrombosis complicated by pulmonary embolism. A complete thrombosis checkup was undertaken in the patient and other members of his family in search of a biological risk factor for thrombosis.
Results: In addition to severe fibrinogen deficiency with a fibrinogen level < 0.1 g / l in activity and in antigen, the thrombosis assessment revealed resistance to activated protein C found in the afibrinogenemic brothers and the other members of family. This resistance to activated protein C corresponds to a mutation of FV Leiden in the heterozygous state.
Conclusions: Congenital afibrinogenemia is a rare, autosomal recessive disorder that results in multiple life-threatening haemorrhagic manifestations. The occurrence of thrombosis remains exceptional.
The achievement of a complete hemostasis assessment is required for the diagnosis of rare associated deficits of hemostasis responsible for hemorrhagic and thrombotic syndrome.
To cite this abstract in AMA style:Hadjali-Saichi S, Guenounou-Guemmour K, Helley-Russick D, De Mazancourt P, Frigaa I. Afibrinogenemia and Leiden FV Within the Same Family [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/afibrinogenemia-and-leiden-fv-within-the-same-family/. Accessed January 21, 2022.
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