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Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7)

Guglielmo Mariani, Falko H. Herrmann, Francesco Bernardi, Jean-Francois Schved, Gunther Auerswald, Jorgen Ingerslev and The Factor VII Deficiency Study Group

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.

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