Preliminary establishment of a flowchart for diagnosis, treatment of patients with autoimmune hemophilia-like coagulation factorⅩⅢ deficiency, review of literature

doi:10.16150/j.1671-2870.2018.06.006

Abstract

Abstract: Objective: To test and diagnose definitely three patients with suspected autoimmune hemophilia-like coagulation factor ⅩⅢ (AH ⅩⅢ) deficiency and establish a flowchart for the laboratory diagnosis of AH ⅩⅢ deficiency. Methods: The clinical data of these 3 patients were recorded. FⅩⅢ: Act was detected by ammonia release assay. F ⅩⅢ-A: Ag and F ⅩⅢ-B: Ag were assayed by ELISA. Laboratory mixing tests and Bethesda method were used to detect anti-F ⅩⅢ neutralizing antibody, and ELISA was used to detect the autoantibodies against F ⅩⅢ-A. Results: For the 3 patients, positive results were shown by ammonia release assay. FⅩⅢ: Act <5%, F ⅩⅢ-A: Ag <3% and FⅩⅢ-B: Ag were 65.40%, 116.28% and 138.81%, respectively. Laboratory mixing tests were positive in all the 3 patients, and Bethesda method revealed that the neutralizing antibody were 1.83 BU, 1.67 BU and 1.75 BU, respectively. Autoantibodies against F ⅩⅢ-A were detected by immunological assay in all the 3 patients. Conclusions: A flowchart for laboratory diagnosis of AH ⅩⅢ deficiency is established. All the 3 patients were diagnosed as AH ⅩⅢ deficiency caused by low titer autoantibodies against F ⅩⅢ-A. Relevant literature about the diagnosis, treatment and prognosis of AH ⅩⅢ deficiency is reviewed.

Key words: Autoimmune hemophilia-like coagulation factor ⅩⅢ, Diagnosis, Treatment

CLC Number:

R730.43

MA Siyu, LIANG Qian, CHEN Changming, WANG Xuefeng, DING Qiulan. Preliminary establishment of a flowchart for diagnosis, treatment of patients with autoimmune hemophilia-like coagulation factorⅩⅢ deficiency, review of literature[J]. Journal of Diagnostics Concepts & Practice, 2018, 17(06): 650-657.

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