Hereditary afibrinogenemia: A literature review and clinical observations


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Abstract

Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L. The clinical manifestations of the disease can be both bleeding and thromboses of different localizations, which is determined by the multifunctional role of fibrinogen in hemostasis. The described cases demonstrate different clinical phenotypes of the disease. In both cases the diagnosis was confirmed by genetic examinations that revealed homozygous mutations in the fibrinogen A genes. The nature of the mutations assumes consanguineous marriages, as confirmed by the results of a genealogical analysis. Fibrinogen preparations are promising in treating afibrinogenemia in Russia.

References

  1. 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
  2. Acharya S, Dimichele DM. Rare inherited disorders of fibrinogen. Haemophilia. 2008;14:1151-1158. doi: 10.1111/j.1365-2516.2008.01831.x
  3. Peyvandi F, Moerloose P. Rare bleeding disorders. Haemophilia. 2012;18(4): 148-153. doi: 10.1111/j.1365-2516.2012.02841.x
  4. 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
  5. 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
  6. 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
  7. 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.
  8. Hariharan G, Ramachandran S, Parapurath R. Congential afibrinogenemia presenting as antenatal intracranial bleed: a case report. Journal of Pediatrics. 2010;36:1. doi: 10.1186/1824-7288-36-1
  9. 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
  10. 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
  11. Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V. Treatment of congential fibrinogen deficiency: overview and recent findings. Vasc Health Risk Manag. 2009;5:843-848. doi: 10.2147/VHRM.S5305
  12. Gallastegui N, Kimble EL, Harrington TJ. Resolution of fibrinogen deficiency in patient with congenital afibrinogenemia after liver transplantation. Haemophilia. 2016;22(1):48-51. doi: 10.1111/hae.12802
  13. 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
  14. 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
  15. Simsek I, de Mazancourt P, Horellou MH, Erdem H, Pay S, Dinc A, Samama MM.Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodes. Blood Coagul Fibrinolysis. 2008;19(3):247-253. doi: 10.1097/MBC.0b013e3282f564fd
  16. 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.
  17. Mosesson MW. Update on antithrombin I (fibrin). Thromb Haemost. 2007;98(1):105-108.
  18. Heyu Ni, Cécile V. Denis, Sangeetha Subbarao, Jay L. Degen, Thomas N. Sato, Richard O. Hynes, Denisa D. Wagner. Persistence of platelet thrombus formation in arterioles of mice lacking both von Willebrand factor and fibrinogen. J Clin Invest. 2000;106(3):385-392. doi: 10.1172/JCI9896
  19. Neerman-Arbez M, de Moerloose P, Honsberger A, Parlier G, Arnuti B, Biron C, Borg JY, Eber S, Meili E, Peter-Salonen K, Ripoll L, Vervel C, d’Oiron R, Staeger P, Antonarakis SE, Morris MA. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital fibrinogenemia: novel truncating mutations in the FGA and FGG genes. Human Genetics. 2001;108(3):237-240. doi: 10.1007/s004390100469
  20. Lombardi AM, Bortoletto E, Scarparo P, Scapin M, Santarossa L, Girolami A. Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes. Blood Coagul Fibrinolysis. 2008;19(7):639-643. doi: 10.1097/MBC.0b013e32830d8629

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