ETRO working party on factor XIII questionnaire on congenital factor XIII deficiency in Europe: Status and perspectives

Rainer Seitz, Francois Duckert, S. Lopaciuk, L. Muszbek, F. Rodeghiero, U. Seligsohn, Abgrall, Avril, Barthels, Bertrop, Brenner, Capel, Chaboche, Dreyfuss, Egbring, Fondu, Fressinaud, Giangrande, Giradel, GoudemandInbal, Jones, Lämmle, Ljung, Lopaciuk, Ludlam, Mandelli, Marbet, Masure, Meili, Mikkola, Nieuwenhuis, Panicucci, Peters, Rak, Rodeghiero, Scharrer, Seyfert, Sie, Torchet, Trzeciak, Tusell, Worsley, Zimmermann

Research output: Contribution to journalArticle

67 Citations (Scopus)

Abstract

A questionnaire was sent out in 1993 to more than 350 European institutions caring for patients with hemorrhagic disorders with the request to provide data of patients with congenital factor XIII deficiency, to pursue the following aims: (1) establish a registry of congenital factor XIII deficiency patients, (2) promote exchange between clinicians and basic researchers, (3) improve diagnostic and therapeutic approaches, and (4) stimulate research on gene defects and their impact on factor XIII function. So far, 72 patient questionnaires from 60 families have been collected. Their bleeding pattern is typical, with frequent involvement of the umbilical cord and the central nervous system. Forty-nine patients receive regular factor XIII replacement, but obviously some patients with mild symptoms do not require prophylactic substitution, despite low factor XIII levels. On the other hand, 18 patients had factor XIII activities of ≤5% of normal, but only 3 of those patients were reported to have no bleeding symptoms. Furthermore, 17 symptomatic, apparently heterozygous relatives in eight families were observed. Seven out of 30 females aged over 18 years had experienced spontaneous abortions; wound healing problems were seen in 26 patients. Currently, a second questionnaire is being distributed to obtain more detailed information on bleeding and other symptoms, diagnostic approaches, and exclusion of concurrent other bleeding diatheses. Future activities will be validation and standardization of assays, and study of gene defects and their impact on the structure of factor XIII and symptoms of patients. We intend to expand the survey to countries outside Europe.

Original languageEnglish
Pages (from-to)415-418
Number of pages4
JournalSeminars in Thrombosis and Hemostasis
Volume22
Issue number5
DOIs
Publication statusPublished - Jan 1 1996

Keywords

  • congenital deficiency
  • factor XIII
  • hemorrhage
  • spontaneous abortion
  • wound healing

ASJC Scopus subject areas

  • Hematology
  • Cardiology and Cardiovascular Medicine

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    Seitz, R., Duckert, F., Lopaciuk, S., Muszbek, L., Rodeghiero, F., Seligsohn, U., Abgrall, Avril, Barthels, Bertrop, Brenner, Capel, Chaboche, Dreyfuss, Egbring, Fondu, Fressinaud, Giangrande, Giradel, ... Zimmermann (1996). ETRO working party on factor XIII questionnaire on congenital factor XIII deficiency in Europe: Status and perspectives. Seminars in Thrombosis and Hemostasis, 22(5), 415-418. https://doi.org/10.1055/s-2007-999040