PO:10:144 | Management of pure red cell aplasia as the onset of systemic lupus erythematosus: a case report

Chrystel Carolin Navarrete Cadena¹, Marika Tardella¹ | ¹Università Politecnica delle Marche Jesi, Ancona, Italy

Objective. Pure red cell aplasia (PRCA) is a rare onset presentation of Systemic Lupus Erythematosus (SLE). It is mediated by abnormal T-cell function and the presence of IgG autoantibodies against erythroid precursors, which can lead to transfusion-dependent anemia (TDA). This study aims to describe the therapeutic challenges in managing a patient with severe TDA, refractory to erythropoietin therapy, and at high risk of secondary hemochromatosis due to an anaphylactic reaction to deferasirox.

Methods. A 58-year-old male with a history of complete thymectomy performed seven years earlier for a capsulated type AB thymoma, and monoclonal gammopathy of undetermined significance (MGUS, IgG/K type), was referred to our department for severe anemia (hemoglobin 6.7 g/dL; reticulocyte count 0.14%) associated with SLE, according to the 2019 EULAR/ACR classification criteria. The patient presented with a positive ANA test (1:320, homogeneous pattern), elevated anti-dsDNA antibody levels (448 IU/mL), decreased complement C4 (0.07 mg/dL), leukopenia (3600/mm³), and oral ulcers. Flow cytometric analysis of the bone marrow aspirate revealed: lymphocytes 28%, composed of 0.5% B cells, 96% T cells with a reduced CD4/CD8 ratio and regular phenotype, and 3% NK cells. Both erythroid precursors and regenerating B-cell progenitors were absent. Bone marrow biopsy showed grade 1 myelofibrosis, marked reduction of erythroid lineage, preserved granulopoiesis, and mildly increased megakaryopoiesis. CD34+ hematopoietic progenitors comprised 1%, with plasma cells accounting for 5–10%.

Results. Hydroxychloroquine (400 mg/day) was initiated, because of the high levels of ferritine, an abdominal MRI was performed and demonstrated diffuse hepatic and splenic hemosiderosis. High dose intravenous methylprednisolone (125 mg) was administered initially without improvement in hemoglobin levels. Two additional pulses of methylprednisolone (1 g each) were given, followed by a tapering regimen (0.7 mg/kg/day). Cyclosporine (3 mg/kg/day) and intravenous immunoglobulin (IVIg 2 g/kg) were added subsequently. During this period, the patient received 30 units of packed red blood cells over four months. Due to the suboptimal response, two infusions of anifrolumab (300 mg each) were administered one month apart, resulting in the achievement of transfusion independence.

Conclusions. PRCA may represent an atypical initial manifestation of SLE and should be considered within the spectrum of lupus-associated hematological disorders. Early recognition and prompt initiation of appropriate immunosuppressive therapy may prevent complications such as transfusion-induced hemosiderosis. This case highlights the therapeutic gap in managing concomitant PRCA and SLE. Current literature supports cyclosporine as a first-line treatment for PRCA. In cases associated with gammopathy, IVIg is recommended. To achieve transfusion independence and reduce corticosteroid exposure, we incorporated an anti-IFN-alfa monoclonal antibody approved for SLE treatment, which demonstrated favorable outcomes in this case. This report supports further research on the role of anifrolumab in lupus-associated hematological manifestations.