Casini Alessandro, de Moerloose Philippe, Neerman-Arbez Marguerite
Division of Angiology and Haemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland.
Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Semin Thromb Hemost. 2016 Jun;42(4):366-74. doi: 10.1055/s-0036-1571339. Epub 2016 Mar 28.
Congenital fibrinogen disorders are rare diseases affecting either the quantity (afibrinogenemia and hypofibrinogenemia) or the quality (dysfibrinogenemia) or both (hypodysfibrinogenemia) of plasmatic fibrinogen. Afibrinogenemia is often diagnosed at birth following prolonged umbilical cord bleeding and is characterized by spontaneous bleeding in all tissues, while hypofibrinogenemic patients are more often asymptomatic. Spontaneous spleen ruptures, painful bone cysts, cardiovascular events, and intrahepatic inclusions can complicate the clinical course of patients with quantitative fibrinogen disorders. Clinical manifestations of dysfibrinogenemia are very heterogeneous, from absence of symptoms to major bleeding or thrombosis, chronic thromboembolic pulmonary hypertension, and renal amyloidosis. Hypodysfibrinogenemic patients can suffer from both major bleeding and recurrent thrombosis. Pregnancy of women with congenital fibrinogen disorders is a high-risk situation. Owing to the absence of controlled randomized studies, clinical management is mainly based on expert consensus. For the treatment and/or the prevention of bleeding, plasma-derived fibrinogen concentrates are the optimal choice. Treatment of thrombosis may be challenging. More specifically, management strategies should be tailored to each patient, taking the personal and familial history of bleeding and thrombosis, the genotype, and the specific clinical situation into account.
先天性纤维蛋白原异常是一类罕见疾病，影响血浆纤维蛋白原的数量（无纤维蛋白原血症和低纤维蛋白原血症）、质量（异常纤维蛋白原血症）或两者（低异常纤维蛋白原血症）。无纤维蛋白原血症常在出生时因脐带出血时间延长而被诊断出来，其特征是所有组织出现自发性出血，而低纤维蛋白原血症患者通常无症状。自发性脾破裂、疼痛性骨囊肿、心血管事件和肝内包涵体可使纤维蛋白原数量异常患者的临床病程复杂化。异常纤维蛋白原血症的临床表现非常多样，从无症状到严重出血或血栓形成、慢性血栓栓塞性肺动脉高压和肾淀粉样变性。低异常纤维蛋白原血症患者可能同时出现严重出血和复发性血栓形成。患有先天性纤维蛋白原异常的女性怀孕是一种高危情况。由于缺乏对照随机研究，临床管理主要基于专家共识。对于出血的治疗和/或预防，血浆源性纤维蛋白原浓缩物是最佳选择。血栓形成的治疗可能具有挑战性。更具体地说，管理策略应根据每位患者的情况量身定制，同时考虑个人和家族的出血和血栓形成病史、基因型以及具体的临床情况。
