Autoimmune factor XIII deficiency with unusual laboratory and clinical phenotype

Julien Bovet, Boglárka Hurják, Emmanuel De Maistre, E. Katona, Krisztina Pénzes, László Muszbek

Research output: Contribution to journalArticle

Abstract

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-A2 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-A2. 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 Ca2+-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.

Original languageEnglish
Pages (from-to)1330-1334
Number of pages5
JournalJournal of Thrombosis and Haemostasis
Volume18
Issue number6
DOIs
Publication statusPublished - Jun 1 2020

Keywords

  • autoimmune disease
  • blood coagulation
  • factor XIII
  • factor XIII deficiency
  • hemorrhagic disorder

ASJC Scopus subject areas

  • Hematology

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