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Coexistence of pancytopenia due to autoimmune myelofibrosis and seizures as presenting complaints in a newly diagnosed case of systemic lupus erythematosus – An interesting combination

 Department of General Medicine, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, Maharashtra, India

Date of Submission05-Aug-2022
Date of Acceptance20-Oct-2022
Date of Web Publication23-Nov-2022

Correspondence Address:
Nirali Thakkar,
Department of General Medicine, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Sant Tukaram Nagar, Pimpri Colony, Pune - 411 018, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/injr.injr_155_22

How to cite this URL:
Vaishnav B, Patil S, Thakkar N, Sharma P. Coexistence of pancytopenia due to autoimmune myelofibrosis and seizures as presenting complaints in a newly diagnosed case of systemic lupus erythematosus – An interesting combination. Indian J Rheumatol [Epub ahead of print] [cited 2022 Nov 29]. Available from:

Dear Editor,

Systemic lupus erythematosus (SLE) is characterized by multiorgan involvement and the presence of autoantibodies. The disease results from the interaction of genes, environment, and random effects combined to lead to loss of tolerance to self-antigens and active autoimmunity. Hematological and neurological abnormalities are common findings in the course of SLE and they are indeed part of the classification criteria of SLE.[1] Although a range of anemias and cytopenias have been described in SLE, to date very few reports have been published where pancytopenia was the first presentation in a previously healthy female who was then diagnosed to have SLE without mucocutaneous, serosal, and renal involvement.

We report a case of a 21-year-old female who was diagnosed with central nervous system (CNS) lupus with autoimmune myelofibrosis (AIMF), after a 4-week history of fever with pancytopenia new-onset seizures.

A 21-year-old married female with no prior medical history presented to the hospital with 4 weeks history of fever and giddiness. She denied any history of breathlessness, palpitations, easy bruising or bleeding, yellowing of the skin, rashes, or prior blood transfusions. The patient denied using alcohol, tobacco, or any illicit substances. She had delivered a healthy baby before 8 months (full term, normal, and hospital delivery) and was breastfeeding.

On physical examination, her blood pressure was 120/80 mm hg, heart rate was 60 beats/min, respiratory rate was 20 breaths/min, the temperature was 37.7°C (99.86°F), and body mass index was 23.5 kg/m2 and had pallor. She did not have icterus and lymphadenopathy. Systemic examination was normal and there was no organomegaly. Laboratory data on admission – Hemoglobin –7.8 g/dL, hematocrit – 26.2%, red blood cell (RBC) count –3 × 106/μL, platelet count – 37000/μL, white blood cell count (WBC) – 3600/μL with predominant neutrophils (72%), and erythrocyte sedimentation rate – 109 in the 1st h. Lactate dehydrogenase (S.) – (396 mg/dL), serum ferritin (300 μg/l), and serum fibrinogen (320 mg/dL) were within normal limits. Thick smear for malaria, serology for dengue, chikungunya, Leptospira, COVID reverse transcription–polymerase chain reaction, and Widal test was negative. Renal and liver function tests and urine examination were normal. The rheumatoid arthritis factor and anti-citrullinated protein antibody were negative. The ultrasound of the abdomen and pelvis and the chest X-ray were normal. Macrophage activation syndrome (MAS) was ruled out as the patient did not satisfy the diagnostic criteria for MAS.[2] On day 4, bone marrow biopsy and antinuclear antibody (ANA) by immunofluorescence were done in view of pancytopenia and persistent fever. The bone marrow biopsy was suggestive of hypercellular marrow (70%–80%) with myeloid and megakaryocytic proliferation and severe reticulin fibrosis (myelofibrosis [MF] Grade 2–3/3) suggestive of MF [Figure 1].
Figure 1: (a and b) Reticulin fibers, (c and d) the hypercellular marrow with myeloid and megakaryocytic proliferation

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On the 5th day of admission, the patient had persistent fever and three episodes of generalized tonic–clonic seizures. She was started on antiepileptic drug – intravenous levetiracetam but she had three more episodes of seizures. Further, an injection phenytoin was given. No associated other focal neurological deficits were seen. In the interictal phase, the CNS examination was normal. A day after, the patient had resting Pin-rolling tremors and bradykinesia but rigidity was absent. This was suggestive of extrapyramidal involvement.

Complete blood count on Day 6 showed hemoglobin – 8.2 g/dL, hematocrit – 24%, RBC count – 2.65 × 106/μL, platelet count – 83000/μL, and white blood cell count – 5300/μL and was still suggestive of pancytopenia. ANA by IF was positive. ANA blot was sent which was positive for Sm/ribosomal nuclear protein, Sm, and ribosome/PO antigens suggestive of SLE. Magnetic resonance imaging (MRI) brain showed hyperintensities and focal blooming on multiecho gradient recalled echo sequences in bilateral basal ganglia, iron deposition in the ventricular system, prominent basal ganglia, cortical sulci, and mild cerebral atrophy which in association with SLE was suggestive of lupus cerebritis. Cerebrospinal fluid analysis was normal. According to the clinical features, laboratory examination and imaging studies a diagnosis of SLE with AIMF and lupus cerebritis was made.

The following treatment was given – total six cycles of pulse therapy with injection cyclophosphamide (500 mg in 500 ml NS), tapering doses of oral methylprednisolone (starting dose of 1 mg/kg). The patient's symptoms improved. Pancytopenia resolved and there were no seizures.

SLE has been described as the “disease with a thousand faces” due to the heterogeneity of clinical presentation, which often makes diagnosis difficult.[3] This case highlights a few of the varied initial presentations of SLE, especially when the patient does not present with typical and common SLE symptoms of skin and joint involvement or renal involvement.

Hematological involvement is present in almost 50% of SLE patients and is in the form of anemia (80%), leukopenia (50%), or thrombocytopenia (30%–50%).[4],[5] AIMF is rare, although few case reports have been published.[6] AIMF is an uncommon blood disease where there is anemia due to autoimmune etiology and underlying bone marrow myelofibrosis.[7]

Myelofibrosis occurring without an established autoimmune disease is known as primary myelofibrosis and that which occurs in a patient with autoimmune disease is known as secondary or AIMF.[8] Bone marrow findings in AIMF include reticulin fibrosis and marrow lymphoid aggregates, hypercellular marrow with megakaryocyte and erythroid hyperplasia, and polytypic plasmacytosis.[9]

The underlying mechanism of myelofibrosis in SLE is the induction of an autoimmune process that increases the transforming growth factor β, platelet-derived growth factor, and epidermal growth factor which in turn stimulates fibroblast activation, collagen production in the bone marrow leading to bone marrow fibrosis.[10] Studies have shown that AIMF can occur anytime during an autoimmune disease. AIMF as a presenting feature of undiagnosed SLE is relatively rare; however, there are few case reports where AIMF was the first manifestation of SLE.[11],[12] AIMF often occurs in known cases of SLE; however, in rare cases, such as in our case, autoimmune fibrosis can be a presenting feature of SLE. It is possible that AIMF is underreported in cases of SLE due to the fact that myelofibrosis and SLE share some clinical features which overlap. Furthermore, hematological manifestations such as anemia and thrombocytopenia in a young female are often not evaluated thoroughly and thus the diagnosis is often very delayed leading to serious complications of SLE. It is important to evaluate for autoimmune fibrosis and perform a bone marrow biopsy in SLE patients presenting with cytopenias even if mild. This is crucial as AIMF in SLE is responsive to steroids and other immunosuppressive drugs and has a favorable outcome.

CNS manifestations of SLE are classified as focal and diffuse and include aseptic meningitis, cerebrovascular accidents, demyelinating diseases, seizures and movement disorders, acute confusional states, anxiety and mood disorders, acute psychosis, and cognitive dysfunction. Our patient had recurrent seizures and developed extrapyramidal symptoms with altered mentation with MRI brain showing focal basal ganglia hyperintensities and cerebral cortical atrophy suggestive of classic CNS involvement.

The combination of AIMF and neuropsychiatric SLE with extrapyramidal symptoms and recurrent seizures as an early presentation in a newly diagnosed case of SLE is an unusual and interesting presentation. To date, to our knowledge, no similar cases have been published. The high degree of clinical suspicion and early initiation of therapy in AIMF is important for the effective management of AIMF in SLE.

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.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Cansu DÜ, Teke HÜ, Korkmaz C. A rare cause of cytopenia in a patient with systemic lupus erythematosus: Autoimmune myelofibrosis. Eur J Rheumatol 2017;4:76-8.  Back to cited text no. 1
Bojan A, Parvu A, Zsoldos IA, Torok T, Farcas AD. Macrophage activation syndrome: A diagnostic challenge (Review). Exp Ther Med 2021;22:904.  Back to cited text no. 2
Arnaud L, Van Vollenhoven R. Advanced Handbook of Systemic Lupus Erythematosus. Springer International Publishing; 2018.  Back to cited text no. 3
Wallace DJ, Hahn B, editors. Dubois' Lupus Erythematosus. 9th Edition, Elsevier, Edinbergh, 2019. Lippincott Williams & Wilkins; 2007. OCLC Number / Unique Identifier:1051140253:  Back to cited text no. 4
Mbonu I, Sossou C, Nnaoma CB, Sun X, Schleicher L, Xiong W. A case of systemic lupus erythematosus presenting as autoimmune myelofibrosis. Am J Case Rep 2019;20:937-40.  Back to cited text no. 5
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. 6
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. 7
Otoukesh S, Song JY, Mojtahedzadeh M, Mokhtari S, Marcucci G, Pullarkat V, et al. Refractory primary autoimmune myelofibrosis treated with ruxolitinib. Am J Hematol 2021;96:E283-5.  Back to cited text no. 8
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. 9
Tefferi A. Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol 2016;91:1262-71.  Back to cited text no. 10
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.  Back to cited text no. 11
Mbonu I, Sossou C, Nnaoma CB, Sun X, Schleicher L, Xiong W. A case of systemic lupus erythematosus presenting as autoimmune myelofibrosis. Am J Case Rep 2019;20:937-40.  Back to cited text no. 12


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