Abstract Number: PB0153
Meeting: ISTH 2020 Congress
Background: Coagulation factor XIII deficiency (FXIIID) is one of the rare bleeding disorders (1:2,000,000 births). Umbilical cord bleeding, delay of wound healing, intracerebral hemorrhage, ecchymosis and hematomas are common clinical manifestations.
Aims: This study describes a case of congenital FXIIID who developed an autoantibody after repeated exposures to plasma derived FXIII concentrate.
Methods: A 3-year-old female was diagnosed with severe congenital FXIIID (c.1262-1263ins (ACGC)(p.H422Rfs*8) in F13A1 gene) following bleeding from the tongue. The patient was assigned to get prophylaxis with plasma derived FXIII concentrate (10-15 U/Kg/ month). She was referred to hemophilia treatment center with posterior left leg hematoma one-year later. The dose of prophylaxis was increased to 25-30 U/kg monthly with no improvement. Mixing study with normal pooled plasma(NPP) was performed and 5M Urea was used to evaluate the stability of formed clot which was abnormal after 24 hours.
Therefore, evaluation of inhibitor against FXIII was performed. A serial dilutions of patient plasma was mixed with NPP. Then, clot solubility was done for each dilution.
Results: The clot was stable in serial dilutions after 24 hours. The clot of 1/8 dilution had a denser structure in comparison to 1/4 and 1/2 dilutions (table 1). The laboratory investigation revealed the presence of inhibitor but due to lack of commercial FXIII activity assay kit, titration of inhibitor was not possible. New prophylaxis with higher dose of FXIII concentrate (37-40 U/Kg/ month) has been scheduled which was promising with no sign of significant bleeds following six months follow up.
Conclusions: It seems higher doses of FXIII concentrate can control bleedings in patients with inhibitor and should be applied as a first optional treatment as we have seen in our case report. Also, availability of commercial kit plays an essential role to evaluate the titer of inhibitor and follow up of these patients.
|Tests/ sample||Clot solubility test||Clot solubility test after mixing with NPP(30 min 37°c)||1/2 serial dilution||1/4 serial dilution||1/8 serial dilution||Interpretation|
|patient||No clot after 24 hours||No clot after 24 hours||partial sufficient(+)||Stable clot(++)||Stable clot(+++)||Presence of inhibitor against FXIII|
|Control (normal)||Stable clot(++++)||Stable clot(++++)||Stable clot(+++)||Stable clot(+++)||Stable clot(+++)||Normal|
|Control(abnormal)||No clot after 24 hours||Stable clot(+++)||Stable clot(+++)||Stable clot(+++)||Stable clot(+++)||FXIII deficiency|
[Table 1. Investigation on inhibitor against FXIII]
To cite this abstract in AMA style:Karimi M, Shahsavani A, Bazrafshan A, Bordbar M, Zekavat O, Tavoosi H, Safarzadeh Z, Bahmanimehr A, Bolandparvaz N. Inhibitor against Congenital Coagulation Factor XIII Deficiency: A Case Report [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/inhibitor-against-congenital-coagulation-factor-xiii-deficiency-a-case-report/. Accessed October 1, 2023.
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