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DOI: 10.1160/TH12-12-0936
Alloantibodies against the B subunit of plasma factor XIII developed in its congenital deficiency
Publikationsverlauf
Received:
20. Dezember 2012
Accepted after minor revision:
18. Januar 2013
Publikationsdatum:
22. November 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/201304/lookinside/thumbnails/10-1160-th12-12-0936-1.jpg)
Summary
Factor XIII (FXIII) is a fibrin-stabilising factor consisting of catalytic A subunits (FXIII-A) and carrier B subunits (FXIII-B). FXIII-B prevents the fast clearance of FXIII-A from the circulation. Congenital FXIII-A deficiency is a rare bleeding disorder, and congenital FXIII-B deficiency is even rarer. Through our recent nationwide survey on “acquired haemophilia-like disease due to anti-FXIII autoantibodies,” we newly diagnosed severe congenital FXIII-B deficiency in a Japanese man. He developed thrombocytopenia and gingival bleedings at the age of 73, and his FXIII activity was as low as 10% of the normal. When he suddenly developed spontaneous intramuscular haematoma, the bleeding was arrested by infusing FXIII concentrates. However, his FXIII activity remained around 10% of the normal. At the age of 74, ELISA and western blotting assay unexpectedly revealed complete absence of FXIII-B in the patient’s plasma. A dot blot assay detected anti-FXIII-B alloantibodies for the first time in this disease, which could be attributed to the infusion of exogenous FXIII. He was found to be homozygous for a Japanese founder-effect mutation of F13B. Repeated infusions of exogenous FXIII for hemostasis increased anti-FXIII-B alloantibodies that resisted FXIII substitution. To the best knowledge of the authors, none of the remaining 10 reported cases of congenital FXIII-B deficiency developed alloantibodies to exogenous FXIII-B of plasma FXIII. An originally mild bleeding phenotype of severe congenital FXIII-B deficiency can be exaggerated by additional acquired conditions. Physicians should consider congenital FXIII-B deficiency when they encounter cases of unexplained bleeding disorders.
Keywords
Factor concentrates - factor XIII/transglutaminases - inherited coagulation disorders - alloantibody - factor XIII-resistant state* These authors contributed equally to this study.
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