Congenital fibrinogen disorders with repeated thrombosis

被引:5
作者
Zhang, Xiuli [1 ]
Zhang, Chuang [1 ]
Wang, Baoheng [1 ]
Chen, Ningheng [1 ]
Sun, Gaihe [1 ]
Guo, Xueli [1 ]
机构
[1] First Affiliated Hosp Zhengzhou Univ, Div Blood Vessel Surg, . 1 Jianshe E Rd, Zhengzhou, Peoples R China
关键词
Congenital fibrinogen disorders; Congenital dysfibrinogenemia; Thrombosis; Fibrinogen; GAMMA-CHAIN; DYSFIBRINOGENEMIA; MUTATIONS; DELETION; HYPODYSFIBRINOGENAEMIA; AFIBRINOGENEMIA; IDENTIFICATION; BINDING;
D O I
10.1007/s11239-019-01958-y
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Congenital dysfibrinogenemia is characterized with undetectable or low fibrinogen level by Clauss assay complicated by bleeding and/or thrombosis. These may lead to a diagnostic problem to some clinicians unfamiliar with this disease. We reported a case of congenital dysfibrinogenemia manifested as hemorrhage, repeated thrombosis, low fibrinogen levels through Clauss assay and but normal levels of fibrinogen through PT-derived tests. In conclusion, to patients with thrombosis complicated by decreased fibrinogen level, clinicians and laboratory physicians should be alert to the possibility of congenital dysfibrinogenemia.
引用
收藏
页码:312 / 315
页数:4
相关论文
共 19 条
[1]   Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation [J].
Asselta, Rosanna ;
Robusto, Michela ;
Plate, Manuela ;
Santoro, Cristina ;
Peyvandi, Flora ;
Duga, Stefano .
THROMBOSIS RESEARCH, 2015, 136 (01) :168-174
[2]   Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a γ320Asp deletion at the Ca2+ binding site [J].
Brennan, Stephen O. ;
Davis, Ryan L. ;
Mosesson, Michael W. ;
Hernandez, Irene ;
Lowen, Robin ;
Alexander, Saramma J. .
THROMBOSIS AND HAEMOSTASIS, 2007, 98 (02) :467-469
[3]   Hypodysfibrinogenaemia and thrombosis in association with a new fibrinogen γ chain with two mutations (γ114Tyr→His, and γ320Asp deleted) [J].
Brennan, Stephen O. ;
Chitlur, Meera .
THROMBOSIS AND HAEMOSTASIS, 2013, 109 (06) :1180-1182
[4]   Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management [J].
Casini, A. ;
Neerman-Arbez, M. ;
Ariens, R. A. ;
De Moerloose, P. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 (06) :909-919
[5]   Natural history of patients with congenital dysfibrinogenemia [J].
Casini, Alessandro ;
Blondon, Marc ;
Lebreton, Aurelien ;
Koegel, Jeremie ;
Tintillier, Veronique ;
de Maistre, Emmanuel ;
Gautier, Philippe ;
Biron, Christine ;
Neerman-Arbez, Marguerite ;
de Moerloose, Philippe .
BLOOD, 2015, 125 (03) :553-561
[6]   Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bβ and γ chain mutations [J].
Castaman, G. ;
Giacomelli, S. H. ;
Duga, S. ;
Rodeghiero, F. .
HAEMOPHILIA, 2008, 14 (03) :630-633
[7]   Fibrinolysis and the control of blood coagulation [J].
Chapin, John C. ;
Hajjar, Katherine A. .
BLOOD REVIEWS, 2015, 29 (01) :17-24
[8]  
Cunningham MT, 2002, ARCH PATHOL LAB MED, V126, P499
[9]   Congenital Fibrinogen Disorders: An Update [J].
de Moerloose, Philippe ;
Casini, Alessandro ;
Neerman-Arbez, Marguerite .
SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2013, 39 (06) :585-595
[10]   Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement [J].
Franzblau, Emily B. ;
Punzalan, Rowena C. ;
Friedman, Kenneth D. ;
Roy, Angshumoy ;
Bilen, Ozlem ;
Flood, Veronica H. .
PEDIATRIC BLOOD & CANCER, 2013, 60 (03) :500-502