Abstract Listings 2024

Purpose

We report two patients with bilateral orbital disease as their initial presentation of Erdheim-Chester Disease (ECD) with BRAF V600E mutation. We aim to describe the multidisciplinary management and discuss emerging therapies.

Methods

Relevant ophthalmic history and medical history are gathered from electronic and paper medical record.

Results

Case 1
A man in his 50s presented with 2-month history of temporal headache and jaw claudication. He was treated with steroids for presumed temporal arteritis. He developed relative afferent pupillary defect and choroidal folds in left eye which prompted orbital imaging showing bilateral retro-orbital masses. Biopsy confirmed xanthogranulomatous lesions with BRAF V600E mutation. Oral steroids was started by multidisciplinary team (MDT). Despite maximal therapy with methotrexate, he failed to improve with enlargement of orbital masses on imaging. Dabrafenib was later used for symptom relief.

Case 2
A man in his 60s with chronic lymphoproliferative disorder presented with few weeks history of bilateral retrobulbar pressure sensation, horizontal diplopia, blur vision. Examination confirmed reduced vision, raised intraocular pressure and proptosis in right eye. Orbital imaging confirmed bulky infiltrative orbital lesion; biopsy showed histiocytic infiltrate with BRAF V600 mutation. He was admitted under Haematology due to B symptoms. Pegylated Interferon 90mcg once weekly was started per MDT. He responded well to treatment, most recent imaging showed stable orbital disease.

Conclusion

ECD is a rare malignant histiocytic disorder characterised by xanthogranulomatous infiltration of multiple organs. Mutations in BRAF cause abnormal activation in pathways regulating cellular differentiation and apoptosis. The treatment landscape for ECD has evolved significantly following development of targeted agents. A combination of Dabrafenib and Trametinib has demonstrated excellent clinical has since been approved in the America for BRAF V6000E-positive solid tumours, but studies evaluation its efficacy and safety in ECD are still lacking.

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