Cause of pancytopenia in a young female: Think differently

A 15-year-old female presented with fever, bilateral periorbital swelling, oral ulcer, and skin rash [Figure 1a and b – before starting therapy]. Complete blood count revealed pancytopenia; no abnormal cells found. The patient required transfusions with several units of packed RBC and platelet concentrates due to symptomatic pallor and mucosal bleeding manifestations from multiple sites. Blood biochemistry and baseline coagulation parameter were within normal range, serum Vitamin B12 and folate were normal; other inflammatory markers were negative. Magnetic resonance imaging of brain with orbit revealed no abnormalities. Bone marrow study revealed reactive marrow with no significant changes. Anti-nuclear antibody (ANA) profile revealed strong ANA positivity (by Hep-2 cell line) and anti-dsDNA negative and strong positivity for anti-nucleosome antibody. Rheumatologist opinion taken: Diagnosed as a case of systemic lupus erythematosus (SLE) as per European League against Rheumatism/American College of Rheumatology criteria 2019. The patient was started with oral prednisolone (0.5 mg/Kg of body weight) and hydroxychloroquine sulfate (HCQS, 200 mg every 12 hourly) was started. Cytopenia recovered dramatically and completely after 5 days of starting therapy. The periorbital swelling reduced dramatically and skin rash also diminishing gradually [Figure 1c – 2 weeks after starting therapy]. At present, the patient is transfusion independent, doing well and under regular follow-up. While evaluating a case of pancytopenia in a young female, SLE should be suspected for and investigated properly, not to miss this not so uncommon clinical entity.

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Figure 1:

(a) Bilateral periorbital swelling, (b) skin rash, and (c) patient 2 weeks after starting therapy.

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