Erdheim-Chester disease with chorioretinal and orbital involvement: a case report

Area of Science:

• Ophthalmology
• Hematology
• Rare Diseases

Background:

• Erdheim-Chester disease is a rare non-Langerhans histiocytosis characterized by histiocytic proliferative disease.
• Multisystemic involvement can lead to severe complications, including vision loss.

Observation:

• A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss.
• Orbital, chorioretinal, and multi-organ involvement was diagnosed, with a negative BRAF mutation.

Findings:

• Treatment with Interferon-alpha-2a (IFNα-2a) led to initial clinical improvement.
• Cessation of IFNα-2a resulted in recurrent vision loss, which improved upon re-administration of the therapy.

Implications:

• Erdheim-Chester disease requires a multidisciplinary approach for management.
• IFNα-2a may be an effective therapeutic option for Erdheim-Chester disease, particularly for ocular manifestations.
• Early diagnosis and treatment are crucial to prevent potentially fatal multisystemic complications.