title: Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. luscaber@tin.it.
abstract: 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.
authors.forename: A
authors.initials: A
authors.lastname: Girolami
authors.forename: P
authors.initials: P
authors.lastname: Simioni
authors.forename: L
authors.initials: L
authors.lastname: Scarano
authors.forename: B
authors.initials: B
authors.lastname: Girolami
authors.forename: P
authors.initials: P
authors.lastname: Zerbinati
mesh_terms: D020016:Activated Protein C Resistance / Q000235:genetics; D000368:Aged; D000991:Antithrombins / Q000378:metabolism; D005165:Factor V / Q000009:adverse effects* / Q000235:genetics; D005175:Factor XII Deficiency / Q000150:complications* / Q000235:genetics; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D010314:Partial Thromboplastin Time; D010375:Pedigree; D010689:Phlebitis; D017354:Point Mutation; D011486:Protein C / Q000378:metabolism; D017293:Protein S / Q000378:metabolism; D012307:Risk Factors; D019851:Thrombophilia / Q000097:blood; D020246:Venous Thrombosis / Q000235:genetics
chemical_list: D000991:Antithrombins; D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D005165:Factor V