Factor XIII Deficiency: Symptoms, Diagnosis and long term replacement therapy

CASAIS P; MESCHENGIESER SS; GROSSO S; SÁNCHEZ-LUCEROS A; BLANCO AN; LAZZARI MA

Suiza

Congreso; XXIst Congress of the International Society on Thrombosis and Haemostasis; 2007

International Society of Thrombosis and Haemostasis

Introduction: FXIII deficiency is a rare but severe congenital bleeding disorder. Thirty percent of patients (pt)present spontaneous intracranial hemorrhage, absolutely preventable. We report our experience of the management of 4 pt on long-term RT. Interval interinfusion was set according to Test of solubility in urea 5M (TSU)FXIII deficiency is a rare but severe congenital bleeding disorder. Thirty percent of patients (pt)present spontaneous intracranial hemorrhage, absolutely preventable. We report our experience of the management of 4 pt on long-term RT. Interval interinfusion was set according to Test of solubility in urea 5M (TSU) Methods: Retrospective evaluation of medical records.Retrospective evaluation of medical records. Results: Cases: 1. 5-year old girl. When she was 9 months old, she had had hematoma, ecchymosis, and cranial traumatism with retro-orbital hematoma, coma, requiring surgery. She showed no sequel.TSU was abnormal.While she was on cryoprecipitate(2U/monthly) she suffered a facial traumatism with hematoma in the malar region. In 1996, FXIII concentrate (FXIIIc) became available in the country, and she started with it. The interval was set at 20 days. In 1999, she had the menarche with no excessive bleeding. In 2005, she received 500 U/35-38 days. She has been on replacement therapy for nine years. Her evolution has been uneventful 2. 3-year old girl with hematoma, ecchymoses, and tongue bleeding after a mouth cut lasting 5 days. TSU was soluble. On July 2004, she initiated FXIIIc 140IU/24-30 days, remains asymptomatic 3. 43-year old woman had menorrhagia, bleeding with tooth extractions and hematoma. She required transfusions before surgeries. She has been on FXIIIc 500IU/25-30 days for two years with no bleeding episodes or adverse events attributable to therapy 4. 25-year old woman, who quit RT few moths before, consulted for acute abdominal pain due to hemorrhagic luteal cyst. The patient re-started RT as an out-patient and continues to date with no bleeding episodes.Cases: 1. 5-year old girl. When she was 9 months old, she had had hematoma, ecchymosis, and cranial traumatism with retro-orbital hematoma, coma, requiring surgery. She showed no sequel.TSU was abnormal.While she was on cryoprecipitate(2U/monthly) she suffered a facial traumatism with hematoma in the malar region. In 1996, FXIII concentrate (FXIIIc) became available in the country, and she started with it. The interval was set at 20 days. In 1999, she had the menarche with no excessive bleeding. In 2005, she received 500 U/35-38 days. She has been on replacement therapy for nine years. Her evolution has been uneventful 2. 3-year old girl with hematoma, ecchymoses, and tongue bleeding after a mouth cut lasting 5 days. TSU was soluble. On July 2004, she initiated FXIIIc 140IU/24-30 days, remains asymptomatic 3. 43-year old woman had menorrhagia, bleeding with tooth extractions and hematoma. She required transfusions before surgeries. She has been on FXIIIc 500IU/25-30 days for two years with no bleeding episodes or adverse events attributable to therapy 4. 25-year old woman, who quit RT few moths before, consulted for acute abdominal pain due to hemorrhagic luteal cyst. The patient re-started RT as an out-patient and continues to date with no bleeding episodes. Conclusions: FXIII deficiency should be suspected and investigated always considering the test is cheap and accessible. In our series, no patient presented spontaneous cerebral bleeding and one was asymptomatic. RT is mandatory since the risk of bleeding outweighs those of the chronic infusion of concentrates.FXIII deficiency should be suspected and investigated always considering the test is cheap and accessible. In our series, no patient presented spontaneous cerebral bleeding and one was asymptomatic. RT is mandatory since the risk of bleeding outweighs those of the chronic infusion of concentrates.