000			01970cam a2200181 4500500
005			20250112062920.0
041			_afre
042			_adc
100	1	0	_aCasini, Alessandro _eauthor
700	1	0	_a Bridey, Françoise _eauthor
700	1	0	_a de Moerloose, Philippe _eauthor
245	0	0	_aCongenital afibrinogenemia: From genetics to treatments
260			_c2022.
500			_a61
520			_aCongenital afibrinogenemia is a rare coagulation deficiency characterized by the complete absence of fibrinogen. Most mutations are null mutations affecting synthesis, intracellular assembly, or fibrinogen secretion. Bleeding is the main symptom, often taking place as early as the neonatal period, with bleeding from the umbilical cord. The bleeding phenotype is severe, and is characterized by frequent muscle hematomas, hemarthroses, or brain bleeds. Paradoxically, patients with afibrinogenemia also suffer from thrombotic events. Both the arteries and veins are involved, suggesting a common physiopathology. Other symptoms, such as bone cysts, delayed wound healing, or spontaneous spleen ruptures have been observed and affect the patient’s health-related quality of life. Several fibrinogen concentrates are available, with similar pharmacokinetic properties, efficacy, and safety profiles. In cases of bleeding, fibrinogen supplementation is determined by the severity and the source of bleeding, with the aim being a fibrinogen level of 1–1.5g/L. The management of a thrombotic event is challenging as it requires the introduction of a fibrinogen prophylaxis together with antithrombotic therapy. Pregnancy and delivery are high-risk clinical situations. A multidisciplinary approach and an increasing fibrinogen supplementation throughout the pregnancy is mandatory.
786	0		_nSang Thrombose Vaisseaux | Volume 34 | 4 | 2022-07-01 | p. 165-172 | 0999-7385
856	4	1	_uhttps://shs.cairn.info/journal-sang-thrombose-vaisseaux-2022-4-page-165?lang=en
999			_c232195 _d232195