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ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and
R Seitz1, F Duckert, S Lopaciuk
1Paul-Ehrlich-Institute, Department of Hematology and Transfusion Medicine, Langen, Germany.
Insights
Congenital factor XIII deficiency affects patients with typical bleeding patterns, including umbilical cord and CNS issues. Research aims to improve diagnosis, treatment, and understanding of gene defects impacting factor XIII function.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Congenital factor XIII deficiency is a rare bleeding disorder.
- Understanding its clinical manifestations and genetic basis is crucial for effective management.
Purpose of the Study:
- Establish a European registry for congenital factor XIII deficiency patients.
- Promote collaboration between clinicians and researchers.
- Enhance diagnostic and therapeutic strategies.
- Stimulate research into gene defects and their functional impact.
Main Methods:
- A 1993 questionnaire survey distributed to over 350 European institutions.
- Data collection on 72 patients from 60 families with congenital factor XIII deficiency.
- Ongoing distribution of a second questionnaire for detailed information.
Main Results:
- Collected data reveals typical bleeding patterns, notably umbilical cord and central nervous system involvement.
- 49 patients receive regular factor XIII replacement therapy.
- 18 patients with factor XIII activity >= 5% reported symptoms, with only 3 asymptomatic.
- 17 symptomatic heterozygous relatives identified.
- Spontaneous abortions in 7/30 females and wound healing issues in 26 patients observed.
Conclusions:
- Congenital factor XIII deficiency presents with characteristic bleeding symptoms.
- Factor XIII activity levels do not always correlate with bleeding severity.
- Further research is needed to understand gene defects and their impact on factor XIII function and patient outcomes.
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 > or = 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.