caa a22 4500 475824016 CHVBK 20180406123826.0 cr unu---uuuuu 170329e20000401xx s 000 0 eng 10.1023/A:1018774813568 doi (NATIONALLICENCE)springer-10.1023/A:1018774813568 Symptomatic Combined Homozygous Factor XII Deficiency and Heterozygous Factor V Leiden [Elektronische Daten] [A. Girolami, P. Simioni, L. Scarano, B. Girolami, P. Zerbinati] A family with a combined deficiency of factor XII and factor V Leiden is presented. The proposita is a 72-year-old who showed a mild to moderate thrombotic tendency characterized by two episodes of deep venous thrombosis and superficial phlebitis between the age of 50 and 71. She was shown to be carrier of homozygous factor XII deficiency and heterozygous FV Leiden mutation. A sister of the proposita showed the same pattern but remained asymptomatic. Other family members showed either isolated heterozygous factor XII deficiency or combined heterozygous factor XII deficiency and heterozygous FV Leiden mutation but were all asymptomatic. These data lend support to those who maintain that FV Leiden is a mild genetic determinant for thrombosis. The role of FXII deficiency as an additional risk factor remains questionable. Kluwer Academic Publishers, 2000 factor XII deficiency nationallicence APC resistance nationallicence combined defects nationallicence Girolami A. aut Simioni P. aut Scarano L. aut Girolami B. aut Zerbinati P. aut Journal of Thrombosis and Thrombolysis Kluwer Academic Publishers 9/3(2000-04-01), 271-275 0929-5305 9:3<271 2000 9 11239 https://doi.org/10.1023/A:1018774813568 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1023/A:1018774813568 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Girolami A. aut NATIONALLICENCE 700 1- Simioni P. aut NATIONALLICENCE 700 1- Scarano L. aut NATIONALLICENCE 700 1- Girolami B. aut NATIONALLICENCE 700 1- Zerbinati P. aut NATIONALLICENCE 773 0- Journal of Thrombosis and Thrombolysis Kluwer Academic Publishers 9/3(2000-04-01), 271-275 0929-5305 9:3<271 2000 9 11239 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer