Diagnosis of factor XIII deficiency

Dorgalaleh, Akbar; Tabibian, Shadi; Hosseini, Maryam S.; Farshi, Yadolah; Roshanzamir, Fateme; Naderi, Majid; Kazemi, Ahmad; Zaker, Farhad; Aghideh, Ali Noroozi; Shamsizadeh, Morteza

doi:10.1080/10245332.2015.1101975

Cited by 30 publications

(44 citation statements)

References 71 publications

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“…In addition to cross‐linking gamma chain fibrin molecules, activated FXIII can attach the fibrinolytic inhibitor (α 2 antiplasmin) to alpha chain fibrin molecules to prevent premature degradation of the formed clot by fibrinolysis via plasmin …”

Section: Resultsmentioning

confidence: 99%

“…Its sensitivity to FXIII activity levels depends on fibrinogen level, clotting (thrombin and/or Ca 2+ ), and solubilizing agents and their concentration (2% acetic acid, 1% monochloroacetic [MCA] acid, or 5 mol L −1 urea) (Table ). As hypofibrinogenemia and dysfibrinogenemia can cause false‐positive results using the 5 mol L −1 urea solubility test, functional assays should be performed in case of a positive 5 mol L −1 urea test to rule out hypo‐ or dysfibrinogenemia patients . Hypofibrinogenemia and dysfibrinogenemia can be confirmed or excluded using thrombin time, reptilase time, and/or a fibrinogen antigen assay in conjunction with a fibrinogen activity assay.…”

Section: Resultsmentioning

confidence: 99%

“…However, disadvantages include a lack of standardization and low sensitivity (inability to detect mild or moderate deficiency, including heterozygous carriers). The CST therefore underestimates the number of FXIIID cases, may lead to missed or delayed diagnosis, and cannot be used for monitoring prophylactic treatment . Although it is not recommended as a routine screening test for the aforementioned reasons, the CST is often the first screening test utilized in many coagulation laboratories in developing countries as well as in 20% of developed countries .…”

Section: Resultsmentioning

confidence: 99%

“…There are challenges and limitations to each of the quantitative methods used for FXIIID diagnosis, the major disadvantages being variation in the limit of quantitation (<1%‐10%) and low sensitivity. The details of these three methods, including advantages and disadvantages, are described below and in Table …”

Section: Resultsmentioning

confidence: 99%

“…The diagnosis of FXIIID is challenging due to the rarity of the disorder and because standard coagulation screening tests, including prothrombin time, activated partial thromboplastin time, thrombin time, platelet count, or bleeding time, are normal; therefore, specific FXIII assays are required. FXIIID remains one of the most underdiagnosed rare bleeding disorders . Although comprehensive guidelines for FXIIID diagnosis have been published by the International Society on Thrombosis and Haemostasis Scientific and Standardization Committee (ISTH‐SSC), these have not been implemented uniformly worldwide due to insufficient laboratory assay resources .…”

Section: Introductionmentioning

confidence: 99%

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Factor XIII deficiency diagnosis: Challenges and tools

Karimi

Peyvandi

Naderi

et al. 2017

Int J Lab Hematology

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Factor XIII deficiency (FXIIID) is a rare hereditary bleeding disorder arising from heterogeneous mutations, which can lead to life-threatening hemorrhage. The diagnosis of FXIIID is challenging due to normal standard coagulation assays requiring specific FXIII assays for diagnosis, which is especially difficult in developing countries. This report presents an overview of FXIIID diagnosis and laboratory methods and suggests an algorithm to improve diagnostic efficiency and prevent missed or delayed FXIIID diagnosis. Assays measuring FXIII activity: The currently available assays utilized to diagnose FXIIID, including an overview of their complexity, reliability, sensitivity, and specificity, as well as mutational analysis are reviewed. The use of a FXIII inhibitor assay is described. Diagnostic tools in FXIIID: Many laboratories are not equipped with quantitative FXIII activity assays, and if available, limitations in lower activity ranges are important to consider. Clot solubility tests are not standardized, have a low sensitivity, and are therefore not recommended as routine screening test; however, they are the first screening test in almost all coagulation laboratories in developing countries. To minimize the number of patients with undiagnosed FXIIID, test quality should be improved in less well-equipped laboratories. Common country-specific mutations may facilitate diagnosis through targeted genetic analysis in reference laboratories in suspected cases. However, genetic analysis may not be feasible in every country and may miss spontaneous mutations. Centralized FXIII activity measurements should also be considered. An algorithm for diagnosis of FXIIID including different approaches dependent upon laboratory capability is proposed. K E Y W O R D Sfactor XIII, factor XIII deficiency, factor XIII deficiency diagnosis, FXIII assays, laboratory assays | INTRODUCTIONInherited factor XIII deficiency (FXIIID) is a rare bleeding disorder affecting the final stage of the coagulation system and resulting in a bleeding diathesis.1 The worldwide incidence of FXIIID, inherited as an autosomal recessive disorder, is approximately one per 1-3 million people. Its prevalence depends on geographic region and is higher in areas in which consanguineous marriage is common; however, there is no difference worldwide in affected ethnicity or race. The molecular defects in FXIIID arise from heterogeneous mutations, which can be country-specific, facilitating methods to confirm FXIIID diagnosis in such areas. 2-4Signs and symptoms of FXIIID range from life-threatening hemorrhage such as intracranial hemorrhage to mild forms, including skin bleeding. Umbilical cord bleeding and soft tissue hematoma are the most common and often the first symptom of FXIIID. 3,5,6 In women with severe FXIIID, recurrent miscarriage is common. Heterozygous carriers may show a bleeding tendency upon provocation such as traumatic injury or invasive procedures, and in some cases, umbilical cord bleeding, menorrhagia, miscarriages, or postpartum ble...

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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