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 Table of Contents  
Year : 2021  |  Volume : 16  |  Issue : 1  |  Page : 117-118

Autoimmune myelofibrosis in juvenile systemic lupus erythematosus: An underrecognized entity!

1 Department of Rheumatology, Bharati Vidyapeeth University Medical College Hospital and Research Centre; Consultant Rheumatologist, Apollo Cradle Hospital, Pune, Maharashtra, India
2 Department of Rheumatology, Bharati Vidyapeeth University Medical College Hospital and Research Centre, Pune, Maharashtra, India

Date of Submission18-Jul-2020
Date of Acceptance30-Sep-2020
Date of Web Publication23-Mar-2021

Correspondence Address:
Dr. Sunil V Kapur
Department of Rheumatology, Bharati Vidyapeeth University MedicalCollege Hospital and Research Centre, Pune Consultant Rheumatologist, Apollo Cradle hospital, Pune, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/injr.injr_192_20

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How to cite this article:
Kapur SV, Oswal JS. Autoimmune myelofibrosis in juvenile systemic lupus erythematosus: An underrecognized entity!. Indian J Rheumatol 2021;16:117-8

How to cite this URL:
Kapur SV, Oswal JS. Autoimmune myelofibrosis in juvenile systemic lupus erythematosus: An underrecognized entity!. Indian J Rheumatol [serial online] 2021 [cited 2021 Dec 2];16:117-8. Available from:

Dear Editor,

Hematological abnormalities such as leukopenia, lymphopenia, thrombocytopenia, and hemolytic anemia are frequent manifestations in systemic lupus erythematosus (SLE).[1] Autoimmune myelofibrosis (AIMF) is an underdiagnosed hematological disease characterized by anemia, bone marrow myelofibrosis, and an underlying autoimmune disease and can be a cause of cytopenia in SLE patients.[2] There are very few case reports reported in the literature on AIMF in SLE from India.[3] Here, we report probably the youngest case of a boy from India with constitutional symptoms and pancytopenia as the presenting manifestation of what was ultimately diagnosed as juvenile SLE with AIMF who improved on corticosteroids and mycophenolate mofetil (MMF).

A 16-year-old boy presented with polyarthralgia, fever, and weight loss of 6 months' duration. There was no history of skin rash, alopecia, Raynaud's phenomenon, tuberculosis, bleeding manifestations, or drug intake. Examination revealed oral ulcers, pallor with wrist, and knee synovitis. Investigations revealed pancytopenia (hemoglobin = 6.2 g/dl, white blood cells = 2100/cumm; neutrophils = 44%, lymphocytes = 56%, platelet count = 61,000/cumm) with raised acute-phase reactants (erythrocyte sedimentation rate - 66 mm/h and C-reactive protein - 24 mg/L). Direct Coombs test, Mantoux test, and HIV and blood cultures were negative. Peripheral blood smear showed normal red cell morphology and no nucleated red cells or immature myeloid cells. X-ray of the chest, serum electrolytes, liver and renal function, urine routine, and two-dimensional echocardiography were all within normal limits. Bone marrow trephine biopsy specimen demonstrated hypercellular bone marrow with diffuse reticulin fibrosis and megakaryocytic hyperplasia without overt megakaryocytic dysplasia [Figure 1]a and [Figure 1]b. Computed tomographic scan (abdomen and pelvis) was normal showing no evidence of lymphadenopathy or organomegaly. Immunological examination showed positive antinuclear antibody (ANA titers 1:640 [nucleolar pattern]), anti-double-stranded DNA, anti-smith antibody, anti-ribonucleoprotein antibody, hypocomplementemia (C3 – 23 mg/dl [82–173], C4 – 7.2 mg/dl [13–46 mg/dl]), negative rheumatoid factor, and antiphospholipid antibodies. A test for JAK2 V617F mutation gave a negative result. The patient was diagnosed with AIMF in association with SLE. He was managed with pulse methylprednisolone at 30 mg/kg/dose for 3 days followed by oral corticosteroids at 1 mg/kg/day and hydroxychloroquine. He responded rapidly within the first 2 weeks of treatment with complete resolution of his fever and polyarthralgia. There was gradual normalization of his pancytopenia within 1 month of treatment. Oral corticosteroids were tapered and MMF was introduced as maintenance therapy with close monitoring with a good response.
Figure 1: (a) Bone marrow trephine biopsy specimen demonstrating hypercellular bone marrow with reticulin fibrosis and megakaryocytic hyperplasia without overt megakaryocytic dysplasia (H and E, ×20). (b) Diffuse reticulin fibrosis (black arrow) with multiple intersections compatible with myelofibrosis grade of MF-2 based on European Consensus (Reticulin, ×10)

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Myelofibrosis is a bone marrow disorder characterized by excessive fibrous tissue formation which can be further classified as primary or secondary. Primary myelofibrosis (PMF) is a myeloproliferative neoplasm arising de novo. On the other hand, AIMF is a type of nonmalignant secondary myelofibrosis occurring with a well-defined autoimmune disease (most commonly SLE, systemic sclerosis, juvenile dermatomyositis, Sjögren syndrome, rheumatoid arthritis, or organ-specific autoimmune diseases such as autoimmune hepatitis).[4] Unlike PMF, AIMF typically is a benign disorder and is steroid responsive. Clonal mutation markers such as JAK2 V617F mutation (Lal PathLabs) which was negative in our patient might help in distinguishing PMF from AIMF.[5] AIMF has been defined by a set of diagnostic criteria: (1) Grade 3 or 4 reticulin fibrosis of the bone marrow; (2) lack of clustered or atypical megakaryocytes; (3) lack of myeloid or erythroid dysplasia, eosinophilia and basophilia; (4) lymphocyte infiltration of the bone marrow; (5) lack of osteosclerosis; (6) absent or mild splenomegaly; (7) presence of autoantibodies; and (8) absence of a disorder known to cause myelofibrosis.[2] The presence of young age, normal spleen size, bone marrow reticulin fibrosis, normal myeloid, erythroid, or megakaryocytic morphology in the absence of other causes of bone marrow fibrosis with clinical and laboratory features of lupus and negative JAK2 mutation established the diagnosis of SLE-associated AIMF in our patient. Myelofibrosis was found in only 5% of 41 lupus patients in a case series reported by Wanitpongpun et al.[6] Unlike our patient, Chalayer et al. reported that among 28 patients of lupus-associated AIMF, 25 patients were females.[7] AIMF pathogenesis could be related to lupus immune process stimulating growth factors which in turn causes fibroblast proliferation and increased marrow fibrosis.[8] Previous case reports have demonstrated the efficacy of corticosteroids, azathioprine, MMF, cyclosporine, intravenous immunoglobulin, cyclophosphamide, and rituximab.

Lupus and AIMF share some overlapping clinical features with both responding to immunosuppressive drugs; hence, it is possible that AIMF is underreported. Our case increases awareness regarding AIMF as a presenting manifestation and a cause of cytopenia in a juvenile SLE patient which will require a bone marrow biopsy.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

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.  Back to cited text no. 1
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.  Back to cited text no. 2
Koduri PR, Parvez M, Kaza S, Vanajakshi S. Autoimmune myelofibrosis in systemic lupus erythematosus report of two cases and review of the literature. Indian J Hematol Blood Transfus 2016;32:368-73.  Back to cited text no. 3
Vergara-Lluri ME, Piatek CI, Pullarkat V, Siddiqi IN, O'Connell C, Feinstein DI, et al. Autoimmune myelofibrosis: An update on morphologic features in 29 cases and review of the literature. Hum Pathol 2014;45:2183-91.  Back to cited text no. 4
Patil VR, Chandrakala S, Mantri S, Patil R, Wasekar N, Jijina F. Mutation profile in Indian primary myelofibrosis patients and its clinical implications. South Asian J Cancer 2019;8:186-8.  Back to cited text no. 5
[PUBMED]  [Full text]  
Wanitpongpun C, Teawtrakul N, Mahakkanukrauh A, Siritunyaporn S, Sirijerachai C, Chansung K. Bone marrow abnormalities in systemic lupus erythematosus with peripheral cytopenia. Clin Exp Rheumatol 2012;30:825-9.  Back to cited text no. 6
Chalayer E, Ffrench M, Cathébras P. Bone marrow fibrosis as a feature of systemic lupus erythematosus: A case report and literature review. Springerplus 2014;3:349.  Back to cited text no. 7
Tefferi A. Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol 2016;91:1262-71.  Back to cited text no. 8


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