Hereditary Deficiency of Blood Coagulation Factor I - Afibrinogenemia, Clinical Observation Medical Center of Hematology of the Ministry of Health of The Republic of Uzbekistan.
DOI:
https://doi.org/10.62480/tjms.2022.vol10.pp92-95Keywords:
afibrinogenemia, rare hereditary coagulopathy, congenital fibrinogen deficiency, fibrinogenAbstract
Afibrinogenemia is a congenital hemorrhagic syndrome with an autosomal recessive mode of transmission, which occurs due to a lack of synthesis of factor I (fibrinogen) and is clinically characterized by the occurrence of large post-traumatic bleeding. It is characteristic of a patient with afibrinogenemia that his tendency to bleed is never spontaneous; it is always a consequence of some trauma (sometimes so minor that it can go unnoticed). The first manifestation of the disease occurs at the very moment of the birth of the patient, that is, when the umbilical cord is cut off; this surgical trauma causes severe hemorrhage with a very high mortality rate. The significant frequency of this early onset of afibrinogenemia (70-80% of cases), compared with such a low frequency in hemophilia (3-4%), is due to the fact that maternal antihemophilic globulin, which has a small molecule, passes through the placenta and protects the hemophilic fetus at birth; on the contrary, maternal fibrinogen, which has a large molecule, cannot pass through the placental barrier to protect the afibrinogenamic fetus. In addition, the umbilical cord is very rich in tissue thromboplastin, which can cause blood coagulation (externally) in a hemophilic fetus, but without any effect in the case of an afibrinogenemic fetus. The same hemorrhagic episode occurs on the occasion of circumcision, in male children of the Jewish or Moslem religion; here the frequency is the same as in hemophilia. Hemorrhagic episodes are more frequent during childhood, with its inevitable trauma, in the adult they are much thinner
References
Acharya S, Dimichele DM. Rare inherited disorders of fibrinogen. Haemophilia. 2008;14:1151-1158. doi:10.1111/j.1365-2516.2008.01831.x
Bevan D. Cryoprecipitate: no longer the best therapeutic choice in congential fibrinogen disorders? Thrombosis research. 2009; 124(2):12-15. doi:10.1016/S0049-3848(09)70159-8
Castman G, Rimoldi V, Giacomelli S, Duga S. Congential hypofibrinogenemia associated with novel homozygous fibrinogen Aα and Bβ chain mutations. Thrombosis research. 2015;136(1):144-147. doi:10.1016/j.thromres.2015.04.025
Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, Mannucci M, Tenchini M. Missense mutations in the human β fibrinogen gene cause congential afibrinogenemia by imparing fibrinogen secretion. Blood. 2000;95:1336-1341.
Dupuy E, Soria C, Molho P, Zini JM, Rosenstingl S, Laurian C, Bruneval P, Tobelem G. Embolized ischemic lesions of toes in an afibrinogenemic patient: possible relevance to in vivo circulating thrombin. Thromb Res. 2001;102(3):211-219.
Juraeva N. T., Frequency of occurrence and laboratory features of rare coagulopathies. Journal of Prevention, Diagnosis and Management of Human Diseases, ISSN:2799-1202: Vol:02,№01, Dec 2021-Jan 2022;1-5
Peyvandi F. Result of an international, multicenter pharmacokinetic trial in congential fibrinogen deficiency. Thrombosis research. 2009;124(2):9-11. doi:10.1016/S0049-3848(09)70158-6
Peyvandi F, Moerloose P. Rare bleeding disorders. Haemophilia. 2012;18(4): 148-153. doi: 10.1111/j.1365-2516.2012.02841.x
Sumitha E, Jayandharan N, Arora N, Abraham A, David S. Molecular basis of quantitative fibrinogen disorders in 27 patients from India. Haemophilia. 2013;19:611-618. doi: 10.1111/hae.12143
Shetty S, Shelar T, Mirgal D, Nawadkar V, Pinto P, Shabhag S, Mukaddam A, Kulkarni B, Ghosh K. Rare coagulation factor deficiencies: a countrywide screening data from India. Haemophilia. 2014;20:575-581. doi: 10.1111/hae.12368
Stanciakova L, Kubisz P, Dobrotova M, Stasko J. Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. Expert Rev Hematol. 2016; 9(7):639-648. doi: 10.1080/17474086.2016.1200967
Sartori MT, Milan M, de Bon E, Fadin M, Pesavento R, Zanon E. Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. Haemophilia. 2015;21(1):88-94. doi: 10.1111/hae.12507
Takasugi Y, Shiokawa Y, Kajikawa R, Oh J, Yamamoto Y, Sakata I, Koga Y. Mesenteric venous thrombosis in patient with congential afibrinogenemia and diffuse peritonitis. Ann Hematol. 2005;84(2):129-130. doi: 10.1007/s00277-004-0958-4
Downloads
Published
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
User Rights
Under the Creative Commons Attribution-NonCommercial 4.0 International (CC-BY-NC), the author (s) and users are free to share (copy, distribute and transmit the contribution).
Rights of Authors
Authors retain the following rights:
1. Copyright and other proprietary rights relating to the article, such as patent rights,
2. the right to use the substance of the article in future works, including lectures and books,
3. the right to reproduce the article for own purposes, provided the copies are not offered for sale,
4. the right to self-archive the article.
