Souabni Leila, Meddeb Nihel, Ajlani Houda, Ben Romdhane Neila, Sellami Sleheddine
Rheumatology Department, La Rabta Hospital, Jabbari Street, 1006 Tunis, Tunisia.
Joint Bone Spine. 2008 May;75(3):348-9. doi: 10.1016/j.jbspin.2007.06.013. Epub 2008 Feb 22.
Congenital factor XI deficiency (also known as the Rosenthal syndrome or hemophilia C) manifests as minor bleeding, usually after trauma or surgery. We report a case in which bilateral knee hemarthrosis was the first manifestation. The patient presented at 32 years of age with a 2-year history of mechanical pain and intermittent swelling in both knees. Knee aspiration recovered blood-tinged fluid. The laboratory workup showed severe factor XI deficiency. Replacement therapy with fresh frozen plasma was effective. Tests in the family showed factor XI deficiency in the patient's sister.
先天性因子XI缺乏症（也称为罗森塔尔综合征或血友病C）表现为轻微出血，通常在创伤或手术后出现。我们报告一例以双侧膝关节积血为首发表现的病例。该患者32岁，双膝机械性疼痛和间歇性肿胀已有2年病史。膝关节穿刺抽出含血性液体。实验室检查显示严重的因子XI缺乏。新鲜冰冻血浆替代治疗有效。对其家族成员的检测显示患者的姐姐也存在因子XI缺乏。
