Klinefelter’s syndrome: Associations with increased blood clot (thrombosis)
events (deep venous thrombosis, pulmonary embolus, venous
Free consultation and evaluation.
The close association of Klinefelter’s syndrome (47XXY) with unexplained thrombosis has been known for at least 33 years. Venous thromboemboli (VTE) are ~20 fold more frequent in Klinefelter’s syndrome than in the general population. Previous single case studies of Klinefelters with VTE have found Protein C deficiency, Lupus anticoagulant and anticardiolipin antibodies, and protein S deficiency, homocysteinemeia, the lupus anticoagulant, Factor V Leiden Heterozygosity, Prothrombin gene 20210A heterozygosity, high Factor VIII and high Factor XI .
In our most recent publications, of 67 patients with VTE after taking testosterone, had Klinefelters treated with testosterone replacement therapy. The uniform normal practice to treat the testosterone deficiency of Klinefelters syndrome is with exogenous testosterone. Since exogenous testosterone can interact with previously undiagnosed thrombophilias to produce VTE, there is a reasonable likelihood that the VTE observed in Klinefelters cases does not represent some unique prothrombotic characteristic of Klinefelters itself, but reflects the thrombotic effects of uniform testosterone supplementation interacting with an inherited or acquired increased tendency to form blood clots (thrombophilia) in a group which may also be enriched with familial thrombophilia.
If you have a well-defined diagnosis of Klinefelters syndrome, and have had VTE while taking testosterone therapy, you may have a high likelihood of having an inherited or acquired thrombophilia. We would be glad to assist as follows:
- If you can get to Cincinnati for a FREE 1 hour outpatient consultation, we will obtain the appropriate blood tests for thrombophilia, as well as evaluate your case, and make recommendations for future therapy.
- If you cannot get to Cincinnati for the free 1 hour outpatient consultation, we will, FREE OF CHARGE, provide the necessary laboratory orders for the appropriate blood tests for thrombophilia, evaluate your case, and make recommendations for future therapy. However, your health insurance will have to cover the costs of the laboratory testing for thrombophilia, and unless your health policy covers these costs, they would be very very expensive for you to pay by yourself. If you already have laboratory results for thrombophilia, we will be glad, FREE OF CHARGE, to evaluate them and make recommendations.