Issue: Vojnosanit Pregl 2017; Vol. 74 (No. 5)

Hereditary hemorrhagic telangiectasia associated with inherited thrombophilia

Authors:
Branka Roganović, Slobodan Obradović, Aleksandar Micić, Stanko Petrović

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Introduction. Hereditary hemorrhagic telangiectasia and inher-ited thrombophilia are genetic disorders with quite opposite clinical manifestation. The main characteristic for hereditary hemorrhagic telangiectasia is recurrent bleeding, while the main characteristic for hereditary thrombophilia is thrombosis. The as-sociation between hereditary hemorrhagic telangiectasia and in-herited thrombophilia in the same patient is rare. Case report. We presented a 32-year-old female with recurrent gastrointestinal hemorrhage and epistaxes, during a 9-year period. Hereditary hemorrhagic telangiectasia was established according to “Cura-çao” criteria. Three of four criteria have been present: spontane-ous recurrent epistaxis, multiple telangiectasias (nose) and vis-ceral lesions (gastric angiodysplasias, jejunal telangiectasias, arte-rio-venous jejunal fistula). Pulmonary thromboembolism was the first manifestation of thrombophilia; the diagnosis was con-firmed by genetic testing. Therapy of hemorrhage with tranex-amic acid (anti-fibrinolytic agent; its use increases risk of throm-bosis) was unsuccessful. Remission was achieved by thalidomide. The initial therapy for pulmonary thromboembolism included aspirin (that have an increased risk of bleeding), but aspirin had to be discontinued because of massive hematemesis. Unfortu-nately, a year later, anticoagulant therapy combined with the pro-ton pump inhibitors, were introduced, because of a new throm-bosis. One month after, the patient was still on this therapy, without new episodes of bleeding and thromboembolic events. Conclusion. Hereditary hemorrhagic telangiectasia and inherited thrombophilia could be unrecognized for years, partly due to the lower degree of clinical suspicion. Early diagnosis and the appro-priate choice of therapy are essential for reducing serious conse-quences and to improve quality of life.