Venous thromboembolism due to factor V Q 506 mutation in an adolescent male patient

Özet

A fifteen-year-old male patient was admitted to our hospital with the complaints of severe pain at his waist and lower left extremity. In the past, his older brother and niece had venous thrombosis. Swelling and edema of his left foot, ankle, and knee were evident at his physical examination. The clinical diagnosis of deep vein thrombosis DVT was proved by color Doppler USG, contrast phlebography and MRI. In our patient, DVT was caused by APC resistance due to the FV Q 506 mutation which was confirmed by the investigation of DNA with PCR. Anticoagulation and thrombolytic therapies were administered to the patient, and after the FV gene mutation was demonstrated, oral warfarin therapy was started. He had two recurrent thrombotic events during his follow-up. The case is presented because of its rarity in our country and dis¬cussed with his radiologic and laboratory findings under the light of recent literature. Turk J Haematol 1997; 14:105-108.