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Case Report: Erdheim-Chester disease with liver involvement successfully treated with trametinib
Long Chang1,2, Kai-Ni Shen1,2, Ya-Ping Luo2,3
1Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Background:
Erdheim-Chester disease (ECD) is a rare form of histiocytosis with various clinical manifestations. Liver involvement has been infrequently reported.
Case Presentation:
We report a case of ECD with liver involvement, presenting with progressive elevation of liver enzymes, a manifestation rarely reported in the literature. Follow-up liver function testing and FAPI-PET/CT performed 6 months after initiation of trametinib therapy demonstrated a dramatic response.
Conclusion:
Trametinib holds promise as a therapeutic option for patients with non-BRAF-V600E mutant ECD presenting with liver involvement.
