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


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.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2
Fig. 3


  1. 1.

    Petri M, Orbai AM, Alarcón GS, Gordon C, Merrill JT, Fortin PR, et al. Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. 2012;64:2677–86.

    Article  Google Scholar 

  2. 2.

    Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997;40:1725.

    CAS  Article  Google Scholar 

  3. 3.

    Paquette RL, Meshkinpour A, Rosen PJ. Autoimmune myelofibrosis. A steroid-responsive cause of bone marrow fibrosis associated with systemic lupus erythematosus. Medicine (Baltimore). 1994;73:145–52.

    CAS  Article  Google Scholar 

  4. 4.

    Kuter DJ, Bain B, Mufti G, Bagg A, Hasserjian RP. Bone marrow fibrosis: Pathophysiology and clinical significance of increased bone marrow stromal fibres. Br J Haematol. 2007;139:351–62.

    CAS  Article  Google Scholar 

  5. 5.

    Pullarkat V, Bass RD, Gong JZ, Feinstein DI, Brynes RK. Primary autoimmune myelofibrosis: definition of a distinct clinicopathologic syndrome. Am J Hematol. 2003;72:8–12.

    Article  Google Scholar 

  6. 6.

    Harrison JS, Corcoran KE, Joshi D, Sophacleus C, Rameshwar P. Peripheral monocytes and CD4+ cells are potential sources for increased circulating levels of TGF-β and substance P in autoimmune myelofibrosis. Am J Hematol. 2006;81:51–8.

    CAS  Article  Google Scholar 

  7. 7.

    Tefferi A, Lasho TL, Finke CM, Knudson RA, Ketterling R, Hanson CH, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia. 2014;28:1472–7.

    CAS  Article  Google Scholar 

  8. 8.

    Schieber M, Crispino JD, Stein B. Myelofibrosis in 2019: moving beyond JAK2 inhibition. Blood Cancer J. 2019;9:74.

    Article  Google Scholar 

  9. 9.

    Anderson E, Shah B, Davidson A, Furie R. Lessons learned from bone marrow failure in systemic lupus erythematosus: case reports and review of the literature. Semin Arthritis Rheum. 2018;48:90–104.

    Article  Google Scholar 

  10. 10.

    Kaelin WG, Spivak JL. Systemic lupus erythematosus and myelofibrosis. Am J Med. 1986;81:935–8.

    Article  Google Scholar 

  11. 11.

    Inoue Y, Matsubara A, Okuya S, Okafuji K, Kaku K, Kaneko T. Myelofibrosis and Systemic lupus erythematosus: reversal of fibrosis with high-dose corticosteroid therapy. Acta Haematol. 1992;88:32–6.

    CAS  Article  Google Scholar 

  12. 12.

    Ramakrishna R, Kyle PW, Day PJ, Manoharan A. Evans’ syndrome, myelofibrosis and systemic lupus erythematosus: role of procollagens in myelofibrosis. Pathology. 1995;27:255–9.

    CAS  PubMed  Google Scholar 

  13. 13.

    Konstantopoulos K, et al. Systemic lupus erythematosus presenting as myelofibrosis. Haematologia (Budapest). 1998;29(153–6).

  14. 14.

    Bucelli C, Cattaneo D, Valli VB, Levati GV, Lonati S, Gianelli U, et al. Osteolytic lesions in primary myelofibrosis and effect of ruxolitinib therapy: report of a case and literature review. Chemotherapy. 2018;63:340–4.

    CAS  Article  Google Scholar 

  15. 15.

    Kosmidis PA, Palacas CG, Axelrod AR. Diffuse purely osteolytic lesions in myelofibrosis. Cancer. 1980;46:2263–5.

    CAS  Article  Google Scholar 

  16. 16.

    Jung J-H, Soh MS, Ahn YH, Um YJ, Jung JY, Suh CH, et al. Thrombocytopenia in systemic lupus erythematosus: clinical manifestations, treatment, and prognosis in 230 patients. Medicine (Baltimore). 2016;95:e2818.

    CAS  Article  Google Scholar 

  17. 17.

    Fisher DAC, et al. Cytokine production in myelofibrosis exhibits differential responsiveness to JAK-STAT, MAP kinase, and NFκB signaling. Leukemia. 2019.

  18. 18.

    Leiva O, Ng SK, Chitalia S, Balduini A, Matsuura S, Ravid K. The role of the extracellular matrix in primary myelofibrosis. Blood Cancer J. 2017;7:e525.

    CAS  Article  Google Scholar 

  19. 19.

    Ungprasert P, Chowdhary VR, Davis MD, Makol A. Autoimmune myelofibrosis with pancytopenia as a presenting manifestation of systemic lupus erythematosus responsive to mycophenolate mofetil. Lupus. 2016;25:427–30.

    CAS  Article  Google Scholar 

  20. 20.

    Aharon A, Levy Y, Bar-Dayan Y, Afek A, Zandman-Goddard G, Skurnik Y, et al. Successful treatment of early secondary myelofibrosis in SLE with IVIG. Lupus. 1997;6:408–11.

    CAS  Article  Google Scholar 

  21. 21.

    Petri M. Cyclophosphamide: new approaches for systemic lupus erythematosus. Lupus. 2004;13:366–71.

    CAS  Article  Google Scholar 

  22. 22.

    Gudbrandsdottir S, Birgens HS, Frederiksen H, Jensen BA, Jensen MK, Kjeldsen L, et al. Rituximab and dexamethasone vs dexamethasone monotherapy in newly diagnosed patients with primary immune thrombocytopenia. Blood. 2013;121:1976–81.

    CAS  Article  Google Scholar 

  23. 23.

    Marino C, Cook P. Danazol for lupus thrombocytopenia. Arch Intern Med. 1985;145:2251–2.

    CAS  Article  Google Scholar 

  24. 24.

    Newland A, et al. Remission and platelet responses with romiplostim in primary immune thrombocytopenia: final results from a phase 2 study. Br J Haematol. 2015;172:262–73.

    Article  Google Scholar 

  25. 25.

    Mesa R, How A. I treat symptomatic splenomegaly in patients with myelofibrosis. Blood. 2009;113:5394–400.

    CAS  Article  Google Scholar 

Download references

Author information




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.

Ethics declarations

Ethics Approval

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

Consent for Publication

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

Conflict of Interest

The authors declare no competing interests.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This article is part of the Topical Collection on Medicine

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

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).

Download citation


  • SLE
  • AIMF
  • ITP