Blood, Vol. 96 No. 1 (July 1), 2000:
pp. 374-374
CORRESPONDENCE
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To the Editor: |
Clinical manifestations, management, and molecular
genetics in congenital factor VII deficiency: the International
Registry on Congenital Factor VII Deficiency (IRF7)
Factor VII deficiency is a rare bleeding disorder in which
premature death may occur from severe bleeding. Up to now, our scientific knowledge on factor VII deficiency has been mainly based on
reporting of single cases and groups of patients from confined
geographical areas.1-3
To improve our insight and understanding of the epidemiology and the
heterogeneity of factor VII deficiency through detailed study of the
relationships among causative mutations, polymorphic modifiers,
phenotype variances, the nature of bleeding manifestations, and the
clinical complications and the efficacy of bleed management, a task
group has recently been formed to study, compile, and publish such information.
The steering committee of the International Registry on Congenital
Factor VII Deficiency (IRF7), as originally proposed by G. Mariani, has recently widened its scope to add further expertise, in particular on molecular genetic, biologic, and clinical aspects.
As of today, 10 treatment centers have reported a total of around 90 patients to IRF7. An additional 145 patients suffering factor VII
deficiency have been identified by task group members in their
respective centers. Most of those patients have already been assigned a
mutation diagnosis. Eligible patients reported so far (n = 86)
display a wide distribution of phenotypic variance. In 37% of
patients, less than 2% of normal factor VII:C activity was reported.
No less than 70% of patients had undergone at least one surgical
procedure, and 4 patients had experienced a thrombotic episode
occurring in close relationship with surgery.
Because enrolled or identified patients are almost
exclusively of European Caucasian origin, the IRF7 steering committee
clearly recognizes the need for an expansion of the study. The IRF7
data collection may create a unique opportunity to improve the existing knowledge on congenital factor VII deficiency, and so the steering committee wishes to invite colleagues worldwide to report patients to
the registry.
Entering candidate patients requires filling out a 1-page form.
Interested colleagues are advised to contact IRF7 chair Dr G. Mariani, Hematology and Bone Marrow Transplantation Unit,
University of Palermo, Via del Vespro 129, It-90127 Palermo, Italy;
e-mail: marianigu{at}tin.it. The enrollment form can be submitted by
e-mail or by surface mail. The registry may require supplementary
information once the patient is registered, depending on the nature of
the information disclosed in the entry form. Colleagues are advised to
consult their respective institutions' review boards or ethics committees, as required.
Guglielmo Mariani
Hematology and Bone Marrow Transplantation Unit
University of
Palermo
Palermo, Italy
Falko H. Herrmann
Institute for Human Genetics
University of
Greifswald
Greifswald, Germany
Francesco Bernardi
Department of Biochemisry and Molecular Biology
University of
Ferrara
Ferrara, Italy
Jean-Francois Schved
Laboratory of Hematology
University Hospital Saint-Eloi
Montpellier, France
Gunther Auerswald
Department of Pediatrics
Central Hospital
Bremen, Germany
Jorgen Ingerslev
Center for Hemophilia and Thrombosis
University Hospital
Aarhus/Skejby
Aarhus, Denmark
The Factor VII Deficiency Study Group
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References |
1.
Ragni MV, Lewis JH, Spero JA, Hasiba U.
Factor VII deficiency.
Am J Haematol.
1981;10:79-88[Medline]
[Order article via Infotrieve].
2.
Mariani G, Mazzucconi MG.
Factor VII congenital deficiency.
Haemostasis.
1983;13:169-177[Medline]
[Order article via Infotrieve].
3.
Peyvandi F, Mannucci PM, Asti D, et al.
Clinical manifestations in 28 Italian and Iranian patients with severe factor VII deficiency.
Haemophilia.
1997;3:242-246.
