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Semin Thromb Hemost 2025; 51(05): 491-505
DOI: 10.1055/s-0044-1787188
Review Article

Diagnosis and Treatment of Autoimmune Acquired Coagulation Factor Deficiencies: An Evidence-Based Review of Japanese Practice

Authors

  • Akitada Ichinose

    1   Department of Molecular Patho-Biochemistry and Patho-Biology, Yamagata University School of Medicine, Yamagata, Japan
    2   The Japanese Collaborative Research Group on Autoimmune Acquired Coagulation Factor Deficiencies supported by the Japanese Ministry of Health, Labor and Welfare, Yamagata University School of Medicine, Yamagata, Japan

  • Tsukasa Osaki

    1   Department of Molecular Patho-Biochemistry and Patho-Biology, Yamagata University School of Medicine, Yamagata, Japan
    2   The Japanese Collaborative Research Group on Autoimmune Acquired Coagulation Factor Deficiencies supported by the Japanese Ministry of Health, Labor and Welfare, Yamagata University School of Medicine, Yamagata, Japan
    3   Department of Public Health and Hygiene, Yamagata University Graduate School of Medical Science, Yamagata, Japan

  • Masayoshi Souri

    1   Department of Molecular Patho-Biochemistry and Patho-Biology, Yamagata University School of Medicine, Yamagata, Japan
    2   The Japanese Collaborative Research Group on Autoimmune Acquired Coagulation Factor Deficiencies supported by the Japanese Ministry of Health, Labor and Welfare, Yamagata University School of Medicine, Yamagata, Japan
    3   Department of Public Health and Hygiene, Yamagata University Graduate School of Medical Science, Yamagata, Japan

Funding This study has been supported by research aids to A.I. from the Japanese Ministry of Education, Culture, Sports, Science and Technology (MEXT; 16K09820), the Japan Agency for Medical Research and Development (AMED; 16ek0109043h0003), and the Japanese Ministry of Health, Labor and Welfare (MHLW; 21FC1008).
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Abstract

Among the acquired coagulation factor deficiencies, autoimmune coagulation factor deficiencies (AiCFD) are rare and result from autoantibody production against coagulation factors. In Japan, a nationwide survey on AiCFD has been conducted since 2009. Autoimmune factor XIII, factor VIII, von Willebrand factor, factor V, and factor X deficiencies (AiF13D, AiF8D, AiVWFD, AiF5D, and AiF10D, respectively) have been enacted as “designated intractable disease-282.” The incidence of AiF8D, AiF13D, and AiF5D was 1.83, 0.044, and 0.038 per million people/year, respectively, whereas that of AiVWFD and AiF10D was not calculable owing to the small number of patients. AiF13D and AiF8D were often idiopathic, whereas AiVWFD was often associated with plasma cell neoplasms. Epistaxis was a characteristic symptom of AiVWFD, intramuscular bleeding was frequent in AiF13D and AiF8D, and subcutaneous bleeding (purpura) was frequent in AiF13D and AiF10D, although none were specific to any one disease. Differential diagnosis cannot be made based on bleeding symptoms alone; therefore, rapid and accurate testing is mandatory. Definitive diagnosis of AiCFD necessitates identifying the presence of coagulation factor “inhibitors” and/or “autoantibodies.” Therefore, these tests should be performed upon unexplained severe acquired coagulation factor deficiencies. The mainstay of treatment for AiCFD was hemostatic therapy and autoantibody eradication therapy, which included the replacement of coagulation factors or “bypass” agents and administration of immunosuppressants. The rate of hemorrhagic death was high in AiF13D (13%), followed by AiF5D (7%) and Ai10D (5%); therefore, early diagnosis and optimal treatment are essential for AiCFDs. Given the unknown long-term prognosis, “intractable disease platform registries” have begun to accumulate in Japan.

Keywords

acquired hemorrhagic disorder - autoimmune disease - anticoagulation factor autoantibody - coagulation factor inhibitor - designated intractable disease

Authors' Contributions

M.S. and T.O. conducted experimental examinations, statistical analyses, and proofread the article. A.I. initiated and designed the study, extracted data, wrote, edited, and proofread the article.




Publikationsverlauf

Artikel online veröffentlicht:
12. Juni 2024

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