DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20211008

Congenital hypofibrinogenemia: a case report

Pandala Paramesh, Usha Rani Thota, Rakesh Kotha

Abstract


Fibrinogen disorders are rare bleeding disorders. Fibrinogen is also called factor I which is involved in last step of coagulation cascade. Congenital hypofibrinogenemia is usually caused by mutation of FIB (fibrinogen-binding protein) gene. These disorders should be suspected when Thrombin time is prolonged in well look child with history of bleeding manifestations. We are describing a female child who is having pallor with history of recurrent ecchymosis and minor post traumatic bleeding. Based on coagulation screening profile, we made the diagnosis of hypofibrinogenemia.


Keywords


Fibrinogen, Bleeding diathesis, Congenital hypofibrinogenemia and children

Full Text:

PDF

References


Peyvandi F, Menegatti M, Palla R. Rare bleeding disorders:worldwide efforts for classification, diagnosis, and management. Semin Thromb Hemost. 2013;39(6):579-84.

Neerman-Arbez M, De Moerloose P, Casini A. Laboratory and genetic investigation of mutations accounting for congenital fibrinogendisorders. Semin Thromb Hemost. 2016;42(4):356-65.

Kliegman R. Nelson textbook of pediatrics, twenty-first edition, Elsevier India. 2015;4078.

Casini A, Vilar R, Beauverd Y. Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia. Haemophilia. 2017;23(4):583-9.

Peyvandi F. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost. 2006;4(7):1634-7.

Simurda T, Kubisz P, Dobrotova M, Necas L, Stasko J. Perioperative coagulation management in a patient with congenital afibrinogenemia during revision total hip arthroplasty. Semin Thromb Hemost. 2016;42(6):689-92.

Breen CM, Riazat MI, McCallion N, Boyle MA. Congenital hypofibrinogenemia: a pre-symptomatic detection of an extremely rare bleeding disorder in preterm twins. BMJ Case Rep. 2017;2017.

De Moerloose P, Casini A, Neerman-Arbez M: Congenital fibrinogen disorders: an update. Semin Thromb Hemost. 2013;39:585-95.

Jaffray J, Young G: Developmental hemostasis. Pediatr Clin N Am. 2013;60:1407-17.

Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux S. Nathan, Oski. Hematology and oncology of infancy and childhood, Saunders, USA. 2015;8.

Peyvandi F, Palla R, Mmenagatti M. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European network of rare bleeding disorders. J Thromb Haemost. 2012;10:615-21.

Asselta R, Spena S, Duga S, Tenchini ML. Molecular genetics of quantitative fibrinogen disorders. Cardiovasc Hematol Agents Med Chem. 2007;5(2):163-73.

Casini A, Undas A, Palla R, Thachil J, De Moerloose P. Subcommittee on Factor XIII and Fibrinogen: Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH. J Thromb Haemost. 2018;16:1887-90.

De Moerloose P, Neerman-Arbez M. Treatment of congenital fibrinogen disorders. Expert Opin Biol Ther. 2008;8(7):979-92.

Ehman WC, Almondhiry H. Congenital afibrinogenemia and splenic rupture. Am J Med. 1994;96:92-4.

Korte W, Poon MC, Iorio A, Makris M. Thrombosis in Inherited Fibrinogen Disorders. Transfus Med Hemother. 2017;44(2):70-6.