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Hereditary afibrinogenaemia: from genetics to treatments Ahead of print

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Authors
1 Service d’angiologie et hémostase, hôpitaux universitaires de Genève, Genève, Suisse
2 Pharmacien biologiste, ancien interne des hôpitaux de Paris, France
3 Faculté de médecine, université de Genève, Genève, Suisse
* Correspondence

Hereditary afibrinogenaemia is a rare coagulation deficiency characterised by the complete absence of fibrinogen. Most mutations are null mutations affecting the synthesis, intracellular assembly, or secretion of fibrinogen. Bleeding is the main symptom, often during the neonatal period with bleeding from the umbilical cord. The bleeding phenotype is severe, characterised by frequent muscle haematomas, haemarthroses and cerebral bleeds. Paradoxically, patients with afibrinogenaemia also suffer from thrombotic events. Both arterial and venous regions are involved, suggesting a common physiopathology. Other symptoms, such as bone cysts, delayed wound healing and spontaneous spleen ruptures are observed and affect patients’ health-related quality of life. Several fibrinogen concentrates are available, with similar pharmacokinetic properties, efficacy and safety profiles. In case of bleeding, fibrinogen supplementation is determined by the severity and source of the bleeding, targeting a fibrinogen level of 1–1.5 g/L. Thrombotic events are challenging to manage as they require fibrinogen prophylaxis together with antithrombotic therapy. Pregnancy and child birth are high-risk clinical situations. A multidisciplinary approach and greater fibrinogen supplementation throughout pregnancy is mandatory.