[35-year old patient with severe thromboembolism].
We report a case of a 35 year old male with severe deep vein thrombosis of the lower limb on both sides and pulmonary embolism. A Klinefelter's mosaic (47,XXY [81%]/48,XXXY [19%]) was diagnosed. Because no other cause for this thromboembolism was found, we assume that in part, it was caused by the Klinefelter's mosaic. In all male patients presenting with thromboembolism, especially those with an unusual habitus, a Klinefelter's syndrome should be considered as differential diagnosis. Testosterone substitution therapy should be started in all patients with Klinefelter's syndrome to prevent further disease.
Abteilung für Kardiologie und Angiologie, Department für Innere Medizin, Neurologie und Dermatologie, Universitätsklinikum Leipzig, Liebigstraße 20, Leipzig, Germany. Jens-Gerrit.Kluge@medizin.uni-leipzig.de
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D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D001780:Blood Coagulation Tests; D003131:Combined Modality Therapy; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010644:Phenprocoumon / Q000627:therapeutic use; D011655:Pulmonary Embolism / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D053828:Stockings, Compression; D014057:Tomography, X-Ray Computed; D018616:Ultrasonography, Doppler, Duplex; D020246:Venous Thrombosis / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics
D000925:Anticoagulants; D010644:Phenprocoumon