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.
Key words:
Factor XIII - congenital deficiency - hemorrhage - wound healing - spontaneous abortion
