Reevaluation of the Incidence of Thromboembolic Complications in Congenital Factor XII Deficiency

S. Zeerleder; M. Schloesser; M. Redondo; W. A. Wuillemin; W. Engel; M. Furlan; B. Lämmle

doi:10.1055/s-0037-1614368

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1999; 82(04): 1240-1246
DOI: 10.1055/s-0037-1614368

Review Article

Schattauer GmbH

Reevaluation of the Incidence of Thromboembolic Complications in Congenital Factor XII Deficiency

A Study on 73 Subjects from 14 Swiss Families^[*]

S. Zeerleder

²From the Central Hematology Laboratory, University Hospital of Bern, Bern, Switzerland

,

M. Schloesser

¹Institut für Humangenetik der Universität Göttingen, Göttingen, Germany

,

M. Redondo

²From the Central Hematology Laboratory, University Hospital of Bern, Bern, Switzerland

,

W. A. Wuillemin

²From the Central Hematology Laboratory, University Hospital of Bern, Bern, Switzerland

,

W. Engel

¹Institut für Humangenetik der Universität Göttingen, Göttingen, Germany

,

M. Furlan

²From the Central Hematology Laboratory, University Hospital of Bern, Bern, Switzerland

,

B. Lämmle

²From the Central Hematology Laboratory, University Hospital of Bern, Bern, Switzerland

› Author Affiliations

Abstract

Summary

To further elucidate the debated role of hereditary FXII deficiency as a thrombophilic risk factor this follow-up study on 65 subjects out of 12 Swiss families was undertaken (follow-up: 6 yrs). Fifteen severely FXII deficient subjects (FXII:C < 1%), 35 partially FXII deficient subjects (FXII:C ≥ 1-59%), 10 with normal FXII values (FXII:C ≥ 70%), and 5 non-classifiable subjects (FXII:C ≥ 60-69%) were reevaluated. Eight subjects (4 severely and 3 partially FXII deficient, 1 non-classifiable) were newly enrolled. Four instances of deep vein thrombosis, one superficial vein thrombosis and one myocardial infarction were noted in 2 out of 19 severely FXII deficient subjects during a total life-time period of 866.6 patient-years. In 38 partially FXII deficient subjects (1862.8 patient-years) one ischemic cerebrovascular stroke and one superficial vein thrombosis were recorded in 2 individuals. The 10 subjects with normal FXII values (498.2 patient-years) remained thrombosis-free. One superficial vein thrombosis occurred in an unclassifiable woman. None of the 3 different FXII gene defects revealed in our patients was specifically associated with thromboembolic complications. Kaplan-Meier analysis of thrombosis-free survival suggests that hereditary partial (and probably severe) FXII deficiency does not constitute a thrombophilic condition.

Keywords

Factor XII deficiency - thromboembolic disease - factor XII gene mutations - thrombophilia

Full Text

References

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