Background: ECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease.
Case presentation: A female patient presented with a 2-month history of fever. Imaging revealed multiple thromboses, bone destruction, an abnormal pituitary stalk, and clinical manifestations of diabetes insipidus. Excisional biopsy of a tibial lesion was sent for microscopic examination, and subsequent immunohistochemical testing was positive for expression of CD68 and CD163, and negative for expression of the immune markers CD1a, S100, and langerin. This confirmed the diagnosis of ECD. Treatment with methylprednisolone to inhibit the immune inflammatory response along with anti-cytokine therapy with an interleukin-6 antagonist resulted in satisfactory disease control.
Conclusion: We report a rare case of multiple thromboses, embolism, and multiple organ involvement as the main presentation of ECD, suggesting that ECD should be considered in patients presenting with multiple thromboses associated with multisystem damage. We successfully treated our patient with glucocorticoids and interleukin-6 antagonist. This patient's response to treatment suggests that hormone therapy and cytokine/chemokine therapy may be a potential novel treatment for patients with ECD without gene mutations.
Keywords: Bone lesion; Coated aorta; Erdheim-Chester disease; IL-6 antagonist; Thrombosis.
© 2022. The Author(s).