Biology of Factor XIII and clinical manifestations of Factor XIII deficiency

被引:59
作者
Levy, Jerrold H.
Greenberg, Charles
机构
[1] Emory Univ, Sch Med Cardiothorac Anesthesiol & Crit Care Emor, Atlanta, GA 30322 USA
[2] Med Univ S Carolina, MUSC Hollings Canc Ctr, Charleston, SC 29425 USA
关键词
COAGULATION-FACTOR-XIII; RECOMBINANT FACTOR-XIII; PLASMA FACTOR-XIII; INTRACRANIAL HEMORRHAGE; PHOTOMETRIC ASSAY; V34L POLYMORPHISM; FIBRIN STRUCTURE; FXIII VAL34LEU; CLOT FORMATION; CROSS-LINKING;
D O I
10.1111/j.1537-2995.2012.03865.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Factor XIII (FXIII) is activated by thrombin to form a transglutaminase (FXIIIa) that stabilizes clot formation by the cross-linking of fibrin monomers and antifibrinolytic proteins. Although rare, FXIII deficiency is characterized by variable bleeding manifestations depending on the magnitude of the deficiency. A congenital FXIII deficiency with levels less than 1% can be detected in children who present with prolonged bleeding from the umbilical stump as well as protracted bleeding after trauma. An acquired FXIII deficiency may occur in a number of diseases or clinical situations where FXIII levels and/or its activity are decreased. Patients may also develop a relative deficiency in FXIII as a result of hemorrhage or dilutional changes from transfusions during surgery or trauma and are at increased risk for postoperative bleeding. Genetic studies have identified a wide range of mutations that affect the activity of the FXIII protein but in lieu of molecular genetic analyses, FXIII deficiency can be identified by specific diagnostic assays that measure either the transglutaminase activity of the protein or the levels of the protein and its individual subunits. Replacement therapy has also been shown to increase FXIII levels and reduce bleeding symptoms in patients with congenital FXIII deficiency. This review presents recent findings on the biology of FXIII and the clinical manifestations observed among patients with congenital and acquired FXIII deficiencies.
引用
收藏
页码:1120 / 1131
页数:12
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