Erdheim-Chester Disease With BRAF V600E Mutation and Central Diabetes Insipidus Successfully Treated With Glucocorticoid

Author:

Imaizumi Toshinori123ORCID,Daido Hisashi3ORCID,Kato Takehiro12ORCID,Yabe Daisuke12456ORCID

Affiliation:

1. Department of Diabetes, Endocrinology and Metabolism, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan

2. Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan

3. Department of Diabetes and Endocrinology, Gifu Prefectural General Medical Center , Gifu 500-8717 , Japan

4. Center for One Medicine Innovative Translational Research, Gifu University Institute for Advanced Studies , Gifu 501-1194 , Japan

5. Preemptive Food Research Center, Gifu University Institute for Advanced Studies , Gifu 501-1194 , Japan

6. Center for Healthcare Information Technology, Tokai National Higher Education and Research System , Nagoya 464-8601 , Japan

Abstract

Abstract Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by xanthoma/xanthogranuloma infiltration in various organs and a broad spectrum of clinical presentations, including bone lesions, central diabetes insipidus and renal failure. BRAF V600E mutation is seen in almost half of the cases of ECD; the BRAF inhibitor vemurafenib is recommended treatment in the United States and the European Union. However, the indication for vemurafenib in Japan is limited to unresectable malignant melanoma with BRAF mutation. Although glucocorticoids, interferon, chemotherapy, and radiation therapy are treatment options, no standard therapy for ECD has yet been established in Japan. We describe here a patient with central diabetes insipidus and retroperitoneal lesions who was successfully treated with prednisolone. Glucocorticoid therapy is therefore a plausible alternative for ECD with BRAF V600E mutation when the BRAF inhibitor vemurafenib cannot be used.

Publisher

The Endocrine Society

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