title: Homozygous Carrier of Prothrombin G20210A Mutation with Massive Pulmonary Embolism and His Family: Gender Differences of Susceptibility to Mutation.
abstract: Prothrombin 20210 G>A mutation is the second most frequent inherited factor increasing the risk for developing venous thromboembolism (VTE). The risk for VTE in homozygous carriers of this mutation is not well studied because of their rarity are rare. We report a case of a homozygous carrier of prothrombin mutation: a young man with massive pulmonary embolism, and his family - an asymptomatic homozygous sister, heterozygous parents with asymptomatic mother, and father with history of deep venous thrombosis (DVT). To our knowledge, this is the first reported case of homozygous prothrombin mutation carriers in Bulgaria and the other Balkan countries. We conclude that the homozygous prothrombin mutation creates predisposition for VTE that can manifest or not depending on additional factors, one of which could be male gender.
authors.affiliation: Pulmonary department, Tokuda Hospital, Sofia, Bulgaria
authors.forename: Natalia Y
authors.initials: NY
authors.lastname: Stoeva
authors.affiliation: Clinical laboratory, Tokuda Hospital, Sofia, Bulgaria
authors.forename: Vessela S
authors.initials: VS
authors.lastname: Koleva
mesh_terms: D000328:Adult; D005220:Fathers; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009035:Mothers; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000000981:diagnostic imaging / Q000235:genetics*; D012737:Sex Factors; D035781:Siblings; D014057:Tomography, X-Ray Computed; D020246:Venous Thrombosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D011516:Prothrombin