Congenital afibrinogenemia: From genetics to treatments (notice n° 231860)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01970cam a2200181 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112062807.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Casini, Alessandro |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Congenital afibrinogenemia: From genetics to treatments |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2022.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 61 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Congenital 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. |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bridey, Françoise |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Moerloose, Philippe |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Sang Thrombose Vaisseaux | Volume 34 | 4 | 2022-07-01 | p. 165-172 | 0999-7385 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/journal-sang-thrombose-vaisseaux-2022-4-page-165?lang=en">https://shs.cairn.info/journal-sang-thrombose-vaisseaux-2022-4-page-165?lang=en</a> |
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