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Systemic Lupus Erythematosus with Autoimmune Myelofibrosis, Immune Thrombocytopenic Purpura, and Widespread Lytic Bone Lesions Successfully Treated with Rituximab and Romiplostim: a Case-Based Review

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Abstract

Autoimmune myelofibrosis (AIMF) is a rare complication of systemic lupus erythematosus (SLE) characterized by deposition of collagen and reticulin fibers in the bone marrow mediated by an aberrant production of fibrogenic cytokines and autoantibodies. Cytopenias in SLE/AIMF result from simultaneous underproduction secondary to myelofibrosis and peripheral destruction of blood cells. A 43-year-old woman was admitted for symptomatic pancytopenia associated with chest pain, dizziness, and headaches. Initial studies showed pancytopenia with diffuse osteolytic lesions particularly prominent on the skull, suggesting a possible malignancy. Additional diagnostic workup revealed a new diagnosis of SLE (+ANA, +dsDNA, low C3/C4), myelofibrosis secondary to SLE (JAK2 and CALR negative; bone marrow biopsy showing diffuse grade 4 reticulin and collagen fibrosis), and concurrent immune thrombocytopenic purpura (ITP). She experienced severe thrombocytopenia with minimal response to frequent platelet transfusions and multiple first-line therapies including high-dose prednisone, hydroxychloroquine, and intravenous immunoglobulin. Ultimately, she was treated with rituximab and romiplostim that resulted in stabilization of her platelet count and resolution of osteolytic lesions at 1-year follow-up. The concomitant occurrence of AIMF and ITP in SLE is particularly rare and carries considerable prognostic significance. This presentation of SLE was further complicated by osteolytic lesions in the absence of malignancy, resistance to first-line therapies, and high mortality risk with severe unremitting thrombocytopenia dependent on platelet transfusions. As this constellation of symptoms and pathology posed significant challenges in diagnosis and management, representing the first documented case, we review the literature and discuss our approach and successful treatment.

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Authors and Affiliations

  1. Department of Internal Medicine, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA

    Tejasvi K. Dasari, Jake Jacob, Annie Dai & Lee Bach Lu

  2. Department of Hematology and Oncology, Tulane University School of Medicine, 1430 Tulane Ave, New Orleans, LA, 70112, USA

    Albert Jang

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  1. Tejasvi K. Dasari
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  2. Jake Jacob
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  3. Annie Dai
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  4. Albert Jang
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Contributions

T.K.D. and J.J. conceptualized the study. T.K.D., J.J., and L.L. wrote the manuscript. All authors were involved in the care of the patient and the development of figures for the manuscript, and all provided detailed feedback and approved the final version.

Corresponding author

Correspondence to Lee Bach Lu.

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This manuscript was exempted from institutional review board approval as only deidentified patient information was included.

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Consent to publish this case report was obtained from the patient prior to writing the manuscript. No patient identifiers were used.

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The authors declare no competing interests.

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Dasari, T.K., Jacob, J., Dai, A. et al. Systemic Lupus Erythematosus with Autoimmune Myelofibrosis, Immune Thrombocytopenic Purpura, and Widespread Lytic Bone Lesions Successfully Treated with Rituximab and Romiplostim: a Case-Based Review. SN Compr. Clin. Med. 3, 584–589 (2021). https://doi.org/10.1007/s42399-021-00771-0

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