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Thromb Haemost 1991; 65(02): 117-121
DOI: 10.1055/s-0038-1647467
Original Article
Schattauer GmbH Stuttgart

Thromboembolism and Bleeding Tendency in Congenital Factor XII DeficienCy - A Study on 74 Subjects from 14 Swiss Families

Bernhard Lämmle
The Central Hematology Laboratory Inselspital, University of Bern, Bern, Switzerland
,
Walter A Wuillemin
The Central Hematology Laboratory Inselspital, University of Bern, Bern, Switzerland
,
Isabelle Huber
The Central Hematology Laboratory Inselspital, University of Bern, Bern, Switzerland
,
Marina Krauskopf
The Central Hematology Laboratory Inselspital, University of Bern, Bern, Switzerland
,
Christian Zürcher
The Central Hematology Laboratory Inselspital, University of Bern, Bern, Switzerland
,
Rolf Pflugshaupt
*   Central Laboratory of the Swiss Red Cross, Bern, Switzerland
,
Miha Furlan
The Central Hematology Laboratory Inselspital, University of Bern, Bern, Switzerland
› Author Affiliations
Further Information

Publication History

Received: 28 June 1990

Accepted after revision 28 August 1990

Publication Date:
02 July 2018 (online)

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Summary

In order to assess the clinical implications of hereditary F XII deficietrcy, all available members of Swiss families with F XII deficiency were investigated. Based on the F XII: C values and the family pedigree, the 74 subjects, aged 8-–82 years, were classified as homozygotes/double heterozygotes for F XII deficiency (n = 18), as obligatory (n = 20) or possibly (n = 25) heterozygotes, respectively, and as norrnals (n = 11). None of the 18 subjects with F XII: C <0.01 U/ml and only one possibly heterozygous woman had an abnormal bleeding tendency, confirming the notion that Hageman trait generally does not result in a hemorrhagic diathesis. Two of the 18 subjects with severe F XII deficiency had suffered from venous thromboembolic disease at age <40 years. One heterozygous woman had a leg ulcer probably due to venous thrombosis. Thus, whereas homozygous F XII deficiency may be associated with an increased risk for venous thromboembolic disease, partial F XII deficiency is not, by itself, a strong risk factor for thrombosis.

Where as 17 of the 18 subjects with F xII : C <0.01 U/ml had no detectable F XIL Ag, one cross reacting material-positive F XII deficient subject (F XII:Ag = 0.11 U/ml) was identified. The dysfunctional F XII, present in this subject's plasma and tentatively called F XII Bern, is the fourth abnormal F XII molecule identified so far.