title: Thrombophilia in Klinefelter Syndrome With Deep Venous Thrombosis, Pulmonary Embolism, and Mesenteric Artery Thrombosis on Testosterone Therapy: A Pilot Study.
abstract: We compared thrombophilia and hypofibrinolysis in 6 men with Klinefelter syndrome (KS), without previously known familial thrombophilia, who had sustained deep venous thrombosis (DVT)-pulmonary emboli (PE) or mesenteric artery thrombosis on testosterone replacement therapy (TRT). After the diagnosis of KS, TRT had been started in the 6 men at ages 11, 12, 13, 13, 19, and 48 years. After starting TRT, DVT-PE or mesenteric artery thrombosis was developed in 6 months, 1, 11, 11, 12, and 49 years. Of the 6 men, 4 had high (>150%) factor VIII (177%, 192%, 263%, and 293%), 3 had high (>150%) factor XI (165%, 181%, and 193%), 1 was heterozygous for the factor V Leiden mutation, and 1 was heterozygous for the G20210A prothrombin gene mutation. None of the 6 men had a precipitating event before their DVT-PE. We speculate that the previously known increased rate of DVT-PE and other thrombi in KS reflects an interaction between prothrombotic, long-term TRT with previously undiagnosed familial thrombophilia. Thrombophilia screening in men with KS before starting TRT would identify a cohort at increased risk for subsequent DVT-PE, providing an optimally informed estimate of the risk/benefit ratio of TRT.
authors: 1 The Jewish Hospital of Cincinnati, Dept. of Internal Medicine, Cincinnati, Ohio, USA.|2 The Cholesterol, Metabolism, and Thrombosis Center, Cincinnati, OH, USA.
authors: Charles J
authors: CJ
authors: Glueck
authors: 1 The Jewish Hospital of Cincinnati, Dept. of Internal Medicine, Cincinnati, Ohio, USA.|2 The Cholesterol, Metabolism, and Thrombosis Center, Cincinnati, OH, USA.
authors: Vybhav
authors: V
authors: Jetty
authors: 1 The Jewish Hospital of Cincinnati, Dept. of Internal Medicine, Cincinnati, Ohio, USA.|2 The Cholesterol, Metabolism, and Thrombosis Center, Cincinnati, OH, USA.
authors: Naila
authors: N
authors: Goldenberg
authors: 1 The Jewish Hospital of Cincinnati, Dept. of Internal Medicine, Cincinnati, Ohio, USA.|2 The Cholesterol, Metabolism, and Thrombosis Center, Cincinnati, OH, USA.
authors: Parth
authors: P
authors: Shah
authors: 2 The Cholesterol, Metabolism, and Thrombosis Center, Cincinnati, OH, USA.
authors: Ping
authors: P
authors: Wang
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D005165:Factor V / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007713:Klinefelter Syndrome / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D008297:Male; D008638:Mesenteric Arteries; D008875:Middle Aged; D020125:Mutation, Missense; D011516:Prothrombin / Q000235:genetics / Q000378:metabolism; D011655:Pulmonary Embolism / Q000097:blood / Q000139:chemically induced; D012307:Risk Factors; D013739:Testosterone / Q000008:administration & dosage / Q000009:adverse effects*; D019851:Thrombophilia / Q000097:blood / Q000139:chemically induced / Q000235:genetics; D020246:Venous Thrombosis / Q000097:blood / Q000139:chemically induced / Q000235:genetics
chemical_list: C095381:factor V Leiden; D013739:Testosterone; D005165:Factor V; D011516:Prothrombin
keywords: Klinefelter syndrome; deep venous thrombosis; pulmonary embolus; testosterone; thrombophilia; venous thromboembolism