A Case Report of Congenital Afibrinogenemia

Main Article Content

Aysen Turedi Yildirim
Gokmen Bilgili
Ozlem Buga
Ozen Tekin
Huseyin Gulen

Abstract

Congenital afibrinogenemia is a rare bleeding disorder. It may be manifested as umblical, mucosal, intramuscular, intraarticular, or life-threatening intracranial bleeding. A third-day-old infant was admitted for umblical cord bleeding, and was found to have a prolonged prothrobin time [PT], and activated partial thromboplastin time [aPTT], and a very low fibrinogen level. He was diagnosed as congenital afibrinogenemia, and reported for the rarity of disease, and discussion of novel therapeutic approaches

Downloads

Download data is not yet available.

Article Details

How to Cite
Yildirim, A. T. ., Bilgili, G. ., Buga, O. ., Tekin, O. ., & Gulen, H. . (2014). A Case Report of Congenital Afibrinogenemia. Medical Science and Discovery, 1(1), 27–30. https://doi.org/10.36472/msd.v1i1.35
Section
Case Reports

References

Bolton-Maggs PH, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD, et al. The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia : the official journal of the World Federation of Hemophilia. 2004;10(5):593-628.

Peyvandi F, Duga S, Akhavan S, Mannucci PM. Rare coagulation deficiencies. Haemophilia : the official journal of the World Federation of Hemophilia. 2002;8(3):308-21.

Peyvandi F. Results of an international, multicentre pharmacokinetic trial in congenital fibrinogen deficiency. Thrombosis research. 2009;124 Suppl 2:S9-11.

Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. British journal of haematology. 1999;107(1):204-6.

Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. Journal of thrombosis and haemostasis : JTH. 2006;4(7):1634-7.

de Moerloose P, Neerman-Arbez M. Treatment of congenital fibrinogen disorders. Expert opinion on biological therapy. 2008;8(7):979-92.

Neerman-Arbez M, de Moerloose P. Hereditary fibrinogen abnormalities. In: Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligsohn U, Prchal JT, editors. Williams Hematology, 8th ed. New York, NY: McGraw-Hill. 2010;2051–68.

Acharya SS, Dimichele DM. Rare inherited disorders of fibrinogen. Haemophilia : the official journal of the World Federation of Hemophilia. 2008;14(6):1151-8.

Peyvandi F. Epidemiology and treatment of congenital fibrinogen deficiency. Thrombosis research. 2012;130 Suppl 2:S7-11.

Keeling D, Tait C, Makris M. Guideline on the selection and use of therapeutic products to treat haemophilia and other hereditary bleeding disorders. A United Kingdom Haemophilia Center Doctors' Organisation (UKHCDO) guideline approved by the British Committee for Standards in Haematology. Haemophilia : the official journal of the World Federation of Hemophilia. 2008;14(4):671-84.

de Moerloose P, Neerman-Arbez M. Treatment of congenital fibrinogen disorders. Expert opinion on biological therapy. 2008;8(7):979-92.

Roque H, Stephenson C, Lee MJ, Funai EF, Popiolek D, Kim E, et al. Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies. American journal of hematology. 2004;76(3):267-70.

Haberer JP, Obstler C, Samama CM, Darnige L, Szwebel TA, Meyer A, et al. Postoperative deep venous thrombosis in a woman with congenital afibrinogenaemia treated with fibrinogen concentrates. European journal of anaesthesiology. 2008;25(6):519-21.

Cronin C, Fitzpatrick D, Temperley I. Multiple pulmonary emboli in a patient with afibrinogenaemia. Acta haematologica. 1988;79(1):53-4.

De Mattia D, Regina G, Giordano P, Del Vecchio GC, Altomare M, Schettini F. Association of congenital afibrinogenemia and K-dependent protein C deficiency--a case report. Angiology. 1993;44(9):745-9.

de Moerloose P, Neerman-Arbez M. Congenital fibrinogen disorders. Seminars in thrombosis and hemostasis. 2009;35(4):356-66.

Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. Journal of thrombosis and haemostasis : JTH. 2006;4(7):1634-7.

Parameswaran R, Dickinson JP, de Lord S, Keeling DM, Colvin BT. Spontaneous intracranial bleeding in two patients with congenital afibrinogenaemia and the role of replacement therapy. Haemophilia : the official journal of the World Federation of Hemophilia. 2000;6(6):705-8.