An effective treatment in Erdheim Chester disease: vemurafenib: a case report

Abstract

Abstract Background Erdheim Chester disease (ECD) is a rare disease with multisystemic involvement in the group of non-langerhans cell histiocytosis. Although nearly 100 years have passed since its definition, the number of cases reported all over the world is below 1000. In addition to the rarity of the disease, low awareness seems to play a role in this. Case presentation 47-year-old white caucasian women patient who presented to our clinic with symptoms of weakness-fatigue as well as increasing pain in the knees and ptosis in the left eye. Result of the patient's bone biopsy, ECD was considered pathologically and BRAF V600E mutation was shown molecularly. After presenting the clinical, laboratory and other examination results of the case, the dramatic response seen with targeted therapy will be discussed. Conclusions BRAF V600E mutation is frequently seen in ECD. Vemurafenib plays an active role in targeted therapy.

Keywords

• Erdheim Chester disease
• Vemurafenib
• BRAF V600E
• Mutation
• Rare diseases