検査と技術51巻9号

2023年09月発行

増大号 匠から学ぶ　血栓止血検査ガイド 5章　疾患まとめ

自己免疫性後天性凝固因子欠乏症（厚生労働省指定難病288）—診断ガイドと凝固検査

著者： 一瀬白帝¹

所属機関： ¹山形大学医学部

ページ範囲：P.1139 - P.1144

はじめに

　自己免疫性後天性凝固因子欠乏症（autoimmune coagulation factor deficiency：AiCFD）は，主に高齢者が原因不明の出血症状として発症するまれな疾患である．筆者らは2009年から本疾患を対象とした厚生労働省（厚労省）科学研究事業（班研究）を実施しており，後述する5疾患を指定難病288として制定してきた．本稿では，これまでにまとめて発表したわが国におけるAiCFDのエビデンスに基づいて^1-6），各疾患の概要と凝固検査を中心に解説する．

　なお，紙幅の都合で各疾患の詳細については記述できないので，引用文献を参照していただききたい^1-6）．

参考文献

1）Ichinose A. Autoimmune acquired factor XIII deficiency due to anti-factor XIII/13 antibodies: A summary of 93 patients. Blood Rev. 2017; 31: 37-45.

2）Ichinose A, et al. Autoimmune acquired factor XIII deficiency in Japan 2021 update: Focused on annual incidence and clinical features. Haemophilia. 2022; 28: e121-e124.

3）Ogawa Y, et al. Clinical characteristics and outcomes of acquired hemophilia A: experience at a single center in Japan. Int J Hematol. 2017; 106: 82-89.

4）Ichinose A, et al. A Review of Coagulation Abnormalities of Autoimmune Acquired Factor V Deficiency with a Focus on Japan. Semin Thromb Hemost. 2022; 48: 206-218. Erratum in: Semin Thromb Hemost. 2022; 48: e1.

5）Ichinose A, et al. A Review of Autoimmune Acquired von Willebrand Factor Deficiency in Japan. Semin Thromb Hemost. 2022; 48: 911-925.

6）Ichinose A, et al. Autoimmune Coagulation Factor Ⅹ Deficiency as a Rare Acquired Hemorrhagic Disorder: A Literature Review. Thromb Haemost. 2022; 122: 320-328.

7）Souri M, et al. Cloning of human anti-factor XIII monoclonal antibody dissects mechanisms of polyclonal antibodies in a single patient. J Thromb Haemost. 2023; 21: 255-268.

8）Osaki T, et al. Epitope analysis of human monoclonal antibodies from a patient with autoimmune factor XIII deficiency reveals their inhibitory mechanisms. FEBS Lett. 2023; 597: 1275-1289.

9）Osaki T, et al. Plasma proteomics associated with autoimmune coagulation factor deficiencies reveals the link between inflammation and autoantibody development. Int J Hematol. 2022; 115: 672-685.

10）Osaki T, et al. Important roles of the human leukocyte antigen class I and Ⅱ molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis. PLoS One. 2021; 16: e0257322.

11）Souri M, et al. Antibodies against Noncatalytic B Subunit of Factor XIII Inhibit Activation of Factor XIII and Fibrin Crosslinking. Thromb Haemost. 2023 Apr 19. Epub ahead of print.

12）Osaki T, et al. Retrospective examination of coagulation parameters in 33 patients with autoimmune coagulation factor deficiencies in Japan: A single-center analysis. Thromb Res. 2022; 213: 154-162.

13）Osaki T, et al. Unmet Need for Reliable Immunological Detection Method for Anti-von Willebrand Factor Autoantibodies. Thromb Haemost. 2023; 123: 478-481.