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Afibrinogenemia

MedGen UID:
7919
Concept ID:
C0001733
Disease or Syndrome
Synonym: Afibrinogenemias
SNOMED CT: Afibrinogenemia (278504009)
 
HPO: HP:0034287

Definition

Lack of detectable fibrinogen in the blood circulation. [from HPO]

Conditions with this feature

Congenital afibrinogenemia
MedGen UID:
749036
Concept ID:
C2584774
Disease or Syndrome
Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia; 616004) of the circulating fibrinogen or both (hypodysfibrinogenemia; see 616004). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009). Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).

Professional guidelines

PubMed

Dorgalaleh A, Farshi Y, Haeri K, Ghanbari OB, Ahmadi A
Semin Thromb Hemost 2022 Apr;48(3):344-355. Epub 2022 Jan 6 doi: 10.1055/s-0041-1740566. PMID: 34991167
Stanciakova L, Kubisz P, Dobrotova M, Stasko J
Expert Rev Hematol 2016 Jul;9(7):639-48. doi: 10.1080/17474086.2016.1200967. PMID: 27291795
Casini A, de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2016 Jun;42(4):366-74. Epub 2016 Mar 28 doi: 10.1055/s-0036-1571339. PMID: 27019462

Recent clinical studies

Etiology

Zhang Y, Zuo X, Teng Y
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620912819. doi: 10.1177/1076029620912819. PMID: 32233805Free PMC Article
de Moerloose P, Casini A, Neerman-Arbez M
Semin Thromb Hemost 2013 Sep;39(6):585-95. Epub 2013 Jul 12 doi: 10.1055/s-0033-1349222. PMID: 23852822
de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2009 Jun;35(4):356-66. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225758. PMID: 19598064
Peyvandi F, Kaufman RJ, Seligsohn U, Salomon O, Bolton-Maggs PH, Spreafico M, Menegatti M, Palla R, Siboni S, Mannucci PM
Haemophilia 2006 Jul;12 Suppl 3:137-42. doi: 10.1111/j.1365-2516.2006.01271.x. PMID: 16684009
Shapiro AD
Haemophilia 2000 Jul;6 Suppl 1:120-7. doi: 10.1046/j.1365-2516.2000.00056.x. PMID: 10982278

Diagnosis

Casini A, de Moerloose P
Blood 2021 Nov 25;138(21):2021-2030. doi: 10.1182/blood.2020010116. PMID: 33895794
Shapiro SE
Clin Adv Hematol Oncol 2018 Sep;16(9):602-605. PMID: 30256775
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Stang LJ, Mitchell LG
Methods Mol Biol 2013;992:181-92. doi: 10.1007/978-1-62703-339-8_14. PMID: 23546714
de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2009 Jun;35(4):356-66. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225758. PMID: 19598064

Therapy

Nathwani R, Proumen A, Blaine KP
Curr Opin Anaesthesiol 2023 Jun 1;36(3):382-387. Epub 2023 Mar 6 doi: 10.1097/ACO.0000000000001265. PMID: 36994749
Wang D, Wang J, Hu G, Wang W, Xiao Y, Cai H, Jiang L, Meng L, Yang Y, Zhou X, Hong Z, Yao Z, Xiao M, Chen L, Mao X, Zhu L, Wang J, Qiu L, Li C, Zhou J
Blood 2021 May 27;137(21):2890-2901. doi: 10.1182/blood.2020008936. PMID: 33512480
Lockhart E
Hematology Am Soc Hematol Educ Program 2015;2015:132-7. doi: 10.1182/asheducation-2015.1.132. PMID: 26637712
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099
de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2009 Jun;35(4):356-66. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225758. PMID: 19598064

Prognosis

Casini A, de Moerloose P
Blood 2021 Nov 25;138(21):2021-2030. doi: 10.1182/blood.2020010116. PMID: 33895794
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099
de Moerloose P, Boehlen F, Neerman-Arbez M
Semin Thromb Hemost 2010 Feb;36(1):7-17. Epub 2010 Apr 13 doi: 10.1055/s-0030-1248720. PMID: 20391292
de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2009 Jun;35(4):356-66. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225758. PMID: 19598064
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Clinical prediction guides

Hadjali-Saichi S, de Mazancourt P, Tapon-Bretaudière J, Mirault T, Guenounou K, Frigaa I, Fischer AM, Chafa O, Helley D
Haemophilia 2022 Sep;28(5):822-831. Epub 2022 Apr 30 doi: 10.1111/hae.14579. PMID: 35488806Free PMC Article
Wang D, Wang J, Hu G, Wang W, Xiao Y, Cai H, Jiang L, Meng L, Yang Y, Zhou X, Hong Z, Yao Z, Xiao M, Chen L, Mao X, Zhu L, Wang J, Qiu L, Li C, Zhou J
Blood 2021 May 27;137(21):2890-2901. doi: 10.1182/blood.2020008936. PMID: 33512480
Peng HT, Nascimento B, Beckett A
Biomed Res Int 2018;2018:7020539. Epub 2018 Nov 25 doi: 10.1155/2018/7020539. PMID: 30596098Free PMC Article
Tabibian S, Motlagh H, Naderi M, Dorgalaleh A
Blood Coagul Fibrinolysis 2018 Jan;29(1):1-11. doi: 10.1097/MBC.0000000000000660. PMID: 28901996
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099

Recent systematic reviews

Abi Habib P, Goetzinger K, Turan OM
Ultrasound Obstet Gynecol 2024 Jun;63(6):731-737. Epub 2024 May 16 doi: 10.1002/uog.27547. PMID: 38030960
Li Y, Ding B, Wang X, Ding Q
Thromb Res 2022 Sep;217:36-47. Epub 2022 Jul 14 doi: 10.1016/j.thromres.2022.07.005. PMID: 35853369
Nagler M, Kremer Hovinga JA, Alberio L, Peter-Salonen K, von Tengg-Kobligk H, Lottaz D, Neerman-Arbez M, Lämmle B
Thromb Haemost 2016 Sep 27;116(4):722-32. Epub 2016 Jul 7 doi: 10.1160/TH16-02-0082. PMID: 27384135
Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, Shetty SD, Ghosh K
PLoS One 2014;9(9):e108683. Epub 2014 Oct 2 doi: 10.1371/journal.pone.0108683. PMID: 25275492Free PMC Article
Aubrey-Bassler FK, Sowers N
BMC Emerg Med 2012 Aug 14;12:11. doi: 10.1186/1471-227X-12-11. PMID: 22889306Free PMC Article

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