warfarin and Klinefelter-Syndrome

Klinefelter's syndrome is the most common cause of primary testicular failure. Previous reports have associated Klinefelter's syndrome with increased risk of thrombosis. The exact cause for this association is unknown, but hypoandrogenism affecting fibrinolysis has been implicated. The authors described a unique patient with Klinefelter's syndrome who presented with deep vein thrombosis of the leg and underlying mutations of MTHFR gene, increased factor VIII coagulant activity and an elevated anticardiolipin antibody. To the authors' knowledge, this combination of hypercoagulability risk factors in such a patient has not been previously reported. The authors also reviewed previously published reports of similar patients and discuss potential genetic mutations that may in part predispose this group of patients to venous thrombosis.

Topics: Adult; Antibodies, Anticardiolipin; Anticoagulants; Enoxaparin; Factor VIII; Gene Expression Regulation; Humans; Immunoglobulin M; Klinefelter Syndrome; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Venous Thrombosis; Warfarin

Topics: Activated Protein C Resistance; Adult; Androgens; Anticoagulants; Causality; Erectile Dysfunction; Factor V; Gynecomastia; Humans; Hypogonadism; International Normalized Ratio; Klinefelter Syndrome; Male; Medication Adherence; Pulmonary Embolism; Testis; Testosterone; Ultrasonography; Venous Thrombosis; Warfarin

A 25-year-old man with Klinefelter's syndrome and recurrent thromboplebitis , for which he had been receiving long-term warfarin sodium therapy, had bilateral ecchymoses on the hips coincident with serologically confirmed Epstein-Barr virus-caused mononucleosis. Biopsy specimens taken from the hip lesions showed microscopic findings consistent with a diagnosis of warfarin necrosis. Direct immunofluorescence microscopy disclosed vessel-wall deposition of IgM and heavy upper-dermal deposition of IgG. Electron microscopy disclosed nonspecific endothelial cell blebs that projected into the vessel lumen. The temporal association of mononucleosis with the onset of warfarin necrosis suggests that the viral illness may have precipitated an immunologic endothelial surface reaction, leading to thrombosis and secondary hemorrhage with infarction. To our knowledge, the appearance of warfarin necrosis in a patient receiving long-term, stable anticoagulation therapy has not been previously reported.

Topics: Adult; Herpesvirus 4, Human; Humans; Immunoglobulin G; Immunoglobulin M; Infectious Mononucleosis; Klinefelter Syndrome; Male; Microscopy, Fluorescence; Necrosis; Skin; Thrombophlebitis; Time Factors; Warfarin

Topics: Acute Disease; Adolescent; Adult; Aortography; Chronic Disease; Colitis, Ulcerative; Female; Heparin; Humans; Klinefelter Syndrome; Male; Middle Aged; Nephrotic Syndrome; Phlebography; Renal Veins; Thromboembolism; Thrombophlebitis; Thrombosis; Urography; Warfarin