A Case Report of Congenital Afibrinogenemia
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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
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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.