Abstract 4208

Severe congenital factor XIII (FXIII) deficiency is an autosomal recessive disease of with a low prevalence in the general population (3-5 cases per million), associated with generally severe hemorrhagic diathesis, where the presence of intracraneal hemorrhage (ICH) is much higher than in other coagulopathologies such as hemophilia A or B. However, the basic coagulation tests are normal, which could delay the diagnosis.

We present three cases of severe congenital FXIII deficiency (not diagnosed when referred to our center) with severe hemorrhagic pathology. These patients had normal basic coagulation tests and did not have a family bleeding history. The table show the results.

Table
Patient 1Patient 2Patient 3
Date of birth 1959 1978 2006 
Sex Female Female Female 
Age at diagnosis 15 years old 12 years old 18 months old 
Cause of patient remission Ankle hemarthrosis Seizures Subdural hematoma Subdural hematoma 
Prior hemorrhagic history -umbilical cord bleeding-frontal hematoma requiring surgical management at 12 months-bleeding with dentition -umbilical cord bleeding-hematoma in buttock requiring RBC transfusion for anemia.-hemarthrosis in both knees -umbilical cord bleeding-growing cephalohematoma until 3rd week of life-hematoma by venipuncture lasting 2-3 weeks at 6 months.-delayed healing-Subdural hematoma after minor trauma 3 days prior. 
basic coagulation tests (PT, APTT, TT, fibrinogen) Normal Normal Normal 
Level of functional FXIII <1% < 5 % < 5 % 
Initial treatment Plasma Plasma FXIII concentrate 
Prophylaxis -Plasma: 2 Units every 6 weeks -FXIII concentrate every 4 weeks (since 1994) FXIII concentrate every 4 weeks FXIII concentrate every 3 weeks 
Evolution Major ICH at 30 years old. (had suspended prophylactic treatment in1989) Favorable evolution without consequences. Favorable evolution without consequences. 
Patient 1Patient 2Patient 3
Date of birth 1959 1978 2006 
Sex Female Female Female 
Age at diagnosis 15 years old 12 years old 18 months old 
Cause of patient remission Ankle hemarthrosis Seizures Subdural hematoma Subdural hematoma 
Prior hemorrhagic history -umbilical cord bleeding-frontal hematoma requiring surgical management at 12 months-bleeding with dentition -umbilical cord bleeding-hematoma in buttock requiring RBC transfusion for anemia.-hemarthrosis in both knees -umbilical cord bleeding-growing cephalohematoma until 3rd week of life-hematoma by venipuncture lasting 2-3 weeks at 6 months.-delayed healing-Subdural hematoma after minor trauma 3 days prior. 
basic coagulation tests (PT, APTT, TT, fibrinogen) Normal Normal Normal 
Level of functional FXIII <1% < 5 % < 5 % 
Initial treatment Plasma Plasma FXIII concentrate 
Prophylaxis -Plasma: 2 Units every 6 weeks -FXIII concentrate every 4 weeks (since 1994) FXIII concentrate every 4 weeks FXIII concentrate every 3 weeks 
Evolution Major ICH at 30 years old. (had suspended prophylactic treatment in1989) Favorable evolution without consequences. Favorable evolution without consequences. 
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COMMENTS

Congenital Factor XIII deficiency, although infrequent, should be included in the differential diagnosis of hemorrhagic processes with normal coagulation tests, especially if triggered spontaneously or in a disproportionate manner (in quantity and/or duration). Bleeding of the umbilical cord in the first days or weeks after birth is characteristic of this deficiency (present in 80% of cases). The prophylactic administration of Factor XIII is fundamental due to the frequency of intracranial hemorrhaging.

Disclosures:

No relevant conflicts of interest to declare.

Topics:
factor xiii deficiency, hemorrhage, blood coagulation tests, hematoma, factor xiii, hemarthrosis, hematoma, subdural, activated partial thromboplastin time measurement, anemia, cephalohematoma

Author notes

*

Asterisk with author names denotes non-ASH members.

© 2009 by The American Society of Hematology
2009
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