■冷冻纤维蛋白原是一种异常,由纤维蛋白原组合组成的冷不溶性蛋白质,纤维蛋白,和纤连蛋白.冷冻纤维蛋白原血症可以是各种病症必需的(例如原发性)或继发的。虽然在无症状的健康个体中可以看到低水平的冷冻纤维蛋白原,但没有典型的冷冻纤维蛋白原血症的临床特征的证据。与临床特征相关的冷冻纤维蛋白原血症被认为非常罕见。冷冻纤维蛋白原血症的临床特征包括皮肤表现,包括雷诺现象和网状livedo,更严重的器官威胁表现,如组织缺血和坏疽。
■我们报告一例48岁男性,表现为蓝色手指,四肢远端有明显的紫癜。实验室检查的抗核抗体呈阳性,反双链DNA,抗核糖核蛋白,和类风湿因子,而抗中性粒细胞胞浆抗体和冷球蛋白均为阴性。对高凝状态和感染病因的检测没有揭示。稍后,血管造影计算机断层扫描显示多个肺栓塞和左五指血流中断。由于上述检查不能通过血栓栓塞原因解释血栓的存在,开始寻找抗磷脂综合征以外的原位病因,主要集中在冷冻纤维蛋白原血症上。将使用预热的含有抗凝血剂的管收集的血液样品送到熟悉进行测试的中心实验室。两周后,冷冻纤维蛋白原的阳性结果证实了冷冻纤维蛋白原血症的诊断。由于存在与混合性结缔组织疾病相容的多种体征,他被诊断为混合性结缔组织病继发的冷冻纤维蛋白原血症,用泼尼松治疗,低分子量肝素,前列环素和羟氯喹的初始结果良好。
■冷冻纤维蛋白原血症是一种罕见且未被诊断的疾病。临床医生应该意识到这种冷冻病,尤其是在雷诺现象和其他原因无法解释的缺血性溃疡的情况下。在诊断过程中必须采取预防措施,应该尽快给予治疗。
UNASSIGNED: Cryofibrinogen is an abnormal, cold-insoluble protein composed of a combination of fibrinogen, fibrin, and fibronectin. Cryofibrinogenemia can be essential (e.g. primary) or secondary to various conditions. While low levels of cryofibrinogen can be seen in asymptomatic healthy individuals without evidence of clinical features typical of cryofibrinogenemia, cryofibrinogenemia associated with clinical features is considered very rare. The clinical features of cryofibrinogenemia ranges from skin manifestations, including Raynaud\'s phenomenon and livedo reticularis, to more severe organ-threatening manifestations such as tissue ischemia and gangrene.
UNASSIGNED: We report a case of a 48-year-old male who presented with blue finger and palpable
purpura on his distal extremities. Laboratory workup was positive for anti-nuclear antibodies, anti-double-stranded DNA, anti-ribonucleoprotein, and rheumatoid factor, while antineutrophil cytoplasmic antibodies and cryoglobulins were negative. Testing for hypercoagulable states and infectious etiologies was unrevealing. Later, angiographic computed tomography showed multiple pulmonary embolisms and disruption of blood flow to the left fifth digit. As the aforementioned workup could not explain the presence of the thrombus by a thromboembolic cause, a search for an in situ cause other than antiphospholipid syndrome was initiated and concentrated mainly on cryofibrinogenemia. Blood samples collected using prewarmed anticoagulant containing tubes were sent to central lab familiar with performing the test. Two weeks later, a positive result for the presence of cryofibrinogen confirmed the diagnosis of cryofibrinogenemia. Due to the presence of multiple signs compatible with mixed connective tissue disease, he was diagnosed with cryofibrinogenemia secondary to mixed connective tissue disease, and treatment with prednisone, low-molecular-weight heparin, prostacyclin and hydroxychloroquine was initiaed with favorable outcome.
UNASSIGNED: Cryofibrinogenemia is a rare and underdiagnosed condition. Clinicians should be aware of this cryopathy especially in the cases of Raynaud\'s phenomenon and ischemic ulcers not explained by other causes. Precautions must be taken during the diagnostic process, and therapy should be given as soon as possible.