Case Report: Erdheim-Chester disease with liver involvement successfully treated with trametinib.

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.