This is a comprehensive article describing clinical manifestations and pathogenesis of Erdheim-Chester disease (ECD) followed by a literature review of the available treatments. The authors look to compare historical treatment (HT) with vemurafenib, a BRAF inhibitor. ECD is a non-Langerhans histiocytosis that can have diffuse lipogranulomatous infiltration of the orbit. The overall five-year survival is around 68%, but recent advances in targeted therapy are thought to have increased this. There is a slight male predominance, and the average reported age is 49.6 years. The authors found 57 eyes in the literature that had HT and 12 eyes that had vemurafenib treatment. Although the lower patient numbers are understandable given the rarity of the disease, it does make comparison difficult, especially given the range of treatments in the HT group which include steroids, radiotherapy, interferon-α, caldribine and cyclophosphamide. Their analysis shows that the vemurafenib group have a better visual outcome and reduced mortality rate (although not statistically significant). Further studies with larger cohorts would help to confirm this.
Ophthalmic presentations and outcomes in Erdheim-Chester disease
Reviewed by Hetvi Bhatt
Erdheim-Chester disease and vemurafenib: a review of ophthalmic presentations and clinic outcomes.
CONTRIBUTOR
Hetvi Bhatt
Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK.
View Full Profile
