Original articles

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

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  • a. State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology; b. Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received date: 2018-10-15

  Online published: 2018-12-25

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.

Cite this article

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 . DOI: 10.16150/j.1671-2870.2018.06.006

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