Michaud M, Moulis G, Balardy L, Pourrat J, Huart A, Gaches F, Cougoul P, Blancher A, Puissant B, Arlet P, Sailler L
Médecine interne et gérontologie clinique, CHU de Toulouse, 170, avenue de Casselardit, 31300 Toulouse, France; Inserm U858, 31000 Toulouse, France; Université de Toulouse, 31000 Toulouse, France.
Université de Toulouse, 31000 Toulouse, France; Médecine interne, CHU de Toulouse, 31000 Toulouse, France; Inserm UMR1027, 31000 Toulouse, France.
Rev Med Interne. 2015 Apr;36(4):237-42. doi: 10.1016/j.revmed.2014.09.007. Epub 2014 Dec 29.
Cryofibrinogenemia is an unknown disorder and studies dedicated to it are limited. The aim of our study was to report on the incidence, clinical manifestations and associated diseases in patients with isolated cryofibrinogenemia.
This is a retrospective single-center study. Patients included in this study had a positive and isolated detection of cryofibrinogen between January 1st, 2011 and December 31st, 2012. Identification was possible through the database of the laboratory of immunology.
Two hundred and eighty-one consecutive orders of cryofibrinogenemia were identified. Seventy-three patients had a positive detection of cryofibrinogenemia. Among them, 12 had an isolated cryofibrinogenemia and sixty-one patients (84%) had concomitant cryofibrinogenemia and cryoglobulinemia. The mean age was 59±19years. Seven patients were female (58%). Cutaneous manifestations were present in half case. Peripheral nerve involvement was present in 5 cases (42%) and rheumatic manifestations in 4 patients (33%). A thrombotic event was reported in 7 patients (58%). Renal impairment was present in 7 patients. The median cryofibrinogen concentration was 254±304mg/L. Five patients had a secondary cryofibrinogenemia. The most often prescribed treatment was corticosteroids.
Cryofibrinogenemia is an unknown disorder. Testing for cryoglobulinemia is more frequent than for cryofibrinogenemia whereas clinical manifestations are similar. Detection of cryofibrinogen is positive in most of the cases, with an important prevalence of thrombotic events in this population. This study confirms the importance of conducting prospective studies on cryofibrinogenemia.
冷纤维蛋白原血症是一种病因不明的疾病，针对该疾病的研究有限。我们研究的目的是报告孤立性冷纤维蛋白原血症患者的发病率、临床表现及相关疾病。
这是一项回顾性单中心研究。本研究纳入的患者在2011年1月1日至2012年12月31日期间冷纤维蛋白原检测呈阳性且为孤立性。通过免疫学实验室数据库得以识别。
共识别出281例连续的冷纤维蛋白原血症检测申请。73例患者冷纤维蛋白原血症检测呈阳性。其中，12例为孤立性冷纤维蛋白原血症，61例患者（84%）同时存在冷纤维蛋白原血症和冷球蛋白血症。平均年龄为59±19岁。7例患者为女性（58%）。半数病例有皮肤表现。5例患者（42%）有周围神经受累，4例患者（33%）有风湿表现。7例患者（58%）报告有血栓形成事件。7例患者存在肾功能损害。冷纤维蛋白原浓度中位数为254±304mg/L。5例患者为继发性冷纤维蛋白原血症。最常使用的治疗药物是皮质类固醇。
冷纤维蛋白原血症是一种病因不明的疾病。冷球蛋白血症的检测比冷纤维蛋白原血症更常见，而临床表现相似。大多数情况下冷纤维蛋白原检测呈阳性，该人群中血栓形成事件的发生率较高。本研究证实了对冷纤维蛋白原血症进行前瞻性研究的重要性。
