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Autoimmune factor XIII deficiency with unusual laboratory and clinical phenotype
Author(s) -
Bovet Julien,
Hurják Boglárka,
De Maistre Emmanuel,
Katona Éva,
Pénzes Krisztina,
Muszbek László
Publication year - 2020
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/jth.14811
Subject(s) - autoantibody , medicine , factor xiii deficiency , factor xiii , fibrin , titer , antibody , bleeding diathesis , thrombosis , rheumatoid factor , deep vein , blot , immunology , gastroenterology , chemistry , biochemistry , platelet , gene
Hemorrhagic diathesis due to anti‐factor XIII (FXIII) autoantibody is a rare but severe disorder. Challenges of the diagnosis and treatment is demonstrated by the case of a 67‐year‐old female without previous bleeding history, who suffered a huge muscular hematoma. Without blank subtraction 18% plasma FXIII activity was measured; however, after correction for blank the activity was below the limit of detection and the lack of fibrin cross‐linking in the patient's plasma confirmed the latter result. FXIII‐A 2 antigen was not detectable by enzyme‐linked immunosorbent assay (ELISA); however, it was well detected by western blotting. The autoantibody showed high affinity toward FXIII‐A 2 . Its considerable inhibitory activity was demonstrated by high titer in Bethesda units and the low immunoglobulin G concentration required for inhibition. The main biochemical effect was the inhibition of Ca 2+ ‐induced activation. Eradication therapy was only partially successful. Four months after the last hemorrhagic event the patient suffered deep vein thrombosis complicated by pulmonary embolism.

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