Tsunemine Hiroko, Souri Masayoshi, Kumode Wataru, Arima Nobuyoshi, Ichinose Akitada
Department of Hematology, Shinko Hospital, Kobe, Japan.
The Department of Molecular Patho-Biochemistry and Patho-Biology, Yamagata University School of Medicine, Yamagata, 990-9585, Japan.
Int J Hematol. 2025 Feb;121(2):257-264. doi: 10.1007/s12185-024-03874-1. Epub 2024 Nov 26.
A 63-year-old man, previously diagnosed with multiple autoimmune diseases, developed life-threatening bleeding after gastrectomy for stomach cancer. He survived due to treatment with factor XIII (FXIII) concentrates immediately after his FXIII antigen (Ag) level was reported to be < 5% of normal. Detailed examination by the Japanese Collaborative Research Group on autoimmune coagulation factor deficiencies revealed the presence of anti-FXIII-A and anti-FXIII-B subunit autoantibodies on immunoblot analyses, and thus autoimmune FXIII deficiency (AiF13D) was diagnosed based on the Japanese and international diagnostic criteria. Antibody eradication therapy with prednisolone was initiated and cyclophosphamide was added later. While FXIII:Ag levels remained at 40-50% of normal, bleeding did not recur even after stomach polypectomy. Experimental studies on patient specimens collected at the initial bleeding and later asymptomatic stages demonstrated the co-existence of clearance-accelerating and inhibitory anti-FXIII autoantibodies. The former type was predominant in both the bleeding and asymptomatic stages, whereas the latter became distinct in the asymptomatic stage. This is the first AiF13D patient to demonstrate such a change in anti-FXIII autoantibody type during the clinical course. This report discusses the relationship between autoantibody type and bleeding phenotype in detail, but future large studies are needed to confirm these observations.
一名63岁男性,既往诊断为多种自身免疫性疾病,在因胃癌行胃切除术后发生危及生命的出血。在其FXIII抗原(Ag)水平报告低于正常的5%后,立即使用FXIII浓缩物进行治疗,他得以存活。日本自身免疫性凝血因子缺乏协作研究组的详细检查在免疫印迹分析中发现了抗FXIII - A和抗FXIII - B亚基自身抗体,因此根据日本和国际诊断标准诊断为自身免疫性FXIII缺乏症(AiF13D)。开始使用泼尼松龙进行抗体清除治疗,随后加用环磷酰胺。虽然FXIII:Ag水平维持在正常的40 - 50%,但即使在胃息肉切除术后出血也未复发。对在初次出血时和后期无症状阶段采集的患者标本进行的实验研究表明,存在加速清除和抑制性抗FXIII自身抗体。前一种类型在出血期和无症状期均占主导,而后者在无症状期变得明显。这是首例在临床过程中出现抗FXIII自身抗体类型这种变化的AiF13D患者。本报告详细讨论了自身抗体类型与出血表型之间的关系,但未来需要大型研究来证实这些观察结果。