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  • Title: Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families.
    Author: Lämmle B, Wuillemin WA, Huber I, Krauskopf M, Zürcher C, Pflugshaupt R, Furlan M.
    Journal: Thromb Haemost; 1991 Feb 12; 65(2):117-21. PubMed ID: 1905067.
    Abstract:
    In order to assess the clinical implications of hereditary F XII deficiency, 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 normals (n = 11). None of the 18 subjects with F XII:C less than 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 less than 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. Whereas 17 of the 18 subjects with F XII:C less than 0.01 U/ml had no detectable F XII: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.
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