Kakiuchi Seiji, Takagi Ikumi, Akiyama Hiroaki, Matsuba Hiroyuki, Rikitake Junpei, Kajimoto Kazuyoshi, Hayashi Yoshitake, Iwata Nobuko
Department of Hematology, Yodogawa Christian Hospital, Osaka, Japan.
Department of Pathology, Hyogo Cancer Center, Akashi, Hyogo, Japan.
Am J Case Rep. 2020 Sep 10;21:e924983. doi: 10.12659/AJCR.924983.
BACKGROUND Autoimmune myelofibrosis (AMF) is a rare clinicopathologic entity of bone marrow fibrosis that occurs in association with autoimmune disorders. Steroids are very effective for treatment of AMF and the disease has a good prognosis and should be distinguished from primary myelofibrosis. CASE REPORT A 49-year-old man with bleeding and petechial hemorrhage of the extremities presented to our institution. His platelet count was 1×10⁹/L. Bone marrow aspiration revealed a dry tap, and bone marrow biopsy confirmed small lymphocyte infiltration and increased reticular fibers, consistent with immune thrombocytopenia. Testing for mutations in JAK2, MPL, and CALR was negative. Because the patient had a history of Raynaud's phenomenon, he was suspected to have collagen disease. Anti-Sjögren's-syndrome-related antigen-A antibody testing, Schirmer's test, and fluorescein staining all came back positive, which led to a diagnosis of Sjögren's syndrome. Given the bone marrow findings, the patient also was diagnosed with AMF. Treatment with steroids resulted in an immediate improvement in his platelet count. CONCLUSIONS In the present case, treatment with steroids resulted in prompt improvement in platelet counts and subsequent marrow biopsy showed MF-0 reticulin fibrosis. Bone marrow fibrosis rarely is seen in association with autoimmune disease, and its significance and mechanism are still to be determined.
背景 自身免疫性骨髓纤维化（AMF）是一种与自身免疫性疾病相关的骨髓纤维化的罕见临床病理实体。类固醇对AMF治疗非常有效，该疾病预后良好，应与原发性骨髓纤维化相鉴别。病例报告 一名49岁男性因四肢出血和瘀点性出血前来我院就诊。他的血小板计数为1×10⁹/L。骨髓穿刺显示干抽，骨髓活检证实有小淋巴细胞浸润和网状纤维增加，符合免疫性血小板减少症。JAK2、MPL和CALR基因突变检测均为阴性。由于该患者有雷诺现象病史，怀疑患有胶原病。抗干燥综合征相关抗原A抗体检测、施密特试验和荧光素染色均呈阳性，从而诊断为干燥综合征。鉴于骨髓检查结果，该患者也被诊断为AMF。类固醇治疗使他的血小板计数立即得到改善。结论 在本病例中，类固醇治疗使血小板计数迅速改善，随后的骨髓活检显示为MF-0型网状纤维纤维化。骨髓纤维化很少与自身免疫性疾病相关，其意义和机制仍有待确定。
