Association of systemic lupus erythematosus, Niemann-Pick disease type B, and probable granulomatosis with polyangiitis: A case report.

INTRODUCTION

Niemann-Pick disease type B (NPD B) is a rare autosomal recessive disorder. It is clinically characterized by hepatosplenomegaly, interstitial lung disease, and thrombocytopenia. Its clinical features may overlap with those of autoimmune diseases such as Systemic Lupus Erythematosus (SLE) and Granulomatosis with Polyangiitis (GPA).

OBSERVATION: In this context, we report the first documented case of a 51-year-old woman presenting with the association of NPD B, SLE, and probable GPA. Clinically, the patient exhibited dyspnea, severe anemia, hepatosplenomegaly, Jaccoud's arthropathy, and crusted rhinitis. Laboratory tests were positive for antinuclear antibodies and anti-neutrophil cytoplasmic antigens. Radiological examinations showed interstitial pneumonia and pansinusitis. NPD B was suspected based on the presence of sea-blue histiocytes in bone marrow biopsy and confirmed by sphingomyelinase deficiency. After six months of corticosteroid and hydroxychloroquine therapy, the patient showed significant improvement.

CONCLUSION

This case highlights the importance of considering rare diseases in differential diagnosis, even when clinical signs suggest more common conditions.