Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Abstract

Erdheim Chester disease (ECD) is a type of histiocytosis characterized by a variable clinical presentation. The treatment of ECD is complex and mainly unknown. We aim to conduct a literature review of the treatment of ECD and consolidate the knowledge about the most recent and updated treatment for ECD. To conduct the systematic review, we used the preferred reporting items for systematic reviews and metaanalysis (PRISMA) protocol.To analyze the bias, we used the Cochrane collaboration risk-of-bias tool to assess the bias. We included observational studies and clinical trials on humans, which were written in English. Papers not fulfilling the objective of our study were excluded.Overall, the drug showed efficacy in the clinical trials, showing prolonged improvement and high rates of response rate. Overall, the drug was not well tolerated, and patients had a long list of side effects. Nevertheless, the drug seems to be a good option for second-line treatment for patients with ECD and BRAFV600 mutation.

Pericardiectomy and Mechanical Mitro-Aortic Valve Replacement in a Young Patient With Erdheim-Chester Disease

“… 5 , 6 For patients with BRAF V600E alteration and cardiac or neurologic disease or end-organ dysfunction, BRAF inhibitor therapy with tyrosine kinase inhibitors, vemurafenib, or dabrafenib should be used as first-line therapy. 1 , 9 , 10 For patients with cardiac or neurologic involvement but without genetic alterations, empiric treatment with MEK inhibitors (cobimetinib, trametinib, binimetinib, and selumetinib) should be considered. 1 …”

Vemurafenib for BRAF V600‐mutant Erdheim–Chester disease presenting with bilateral orbital involvement

“…13 The refinement of treatment approaches and the increased awareness of ECD have led to a dramatic improvement in prognosis. 13 In general, initiation of therapy is recommended for all patients rather than observation, with the uncommon exception of patients with asymptomatic disease. Despite the availability of new treatment, it is difficult to design a proper treatment algorithm, mainly due to the absence of randomized controlled trials which are difficult to perform in such a rare disease.…”

“…Studies have shown that vemurafenib is effective for ECD patients with orbital involvement, but not for ECD with multiple organs involvement 10 . Therefore, ECD should be diagnosed and treated early, combined with IFN‐α, vemurafenib, glucocorticoids and surgical treatment to prolong the survival of patients 13 . The refinement of treatment approaches and the increased awareness of ECD have led to a dramatic improvement in prognosis 13 …”

“…10 Therefore, ECD should be diagnosed and treated early, combined with IFN-α, vemurafenib, glucocorticoids and surgical treatment to prolong the survival of patients. 13 The refinement of treatment approaches and the increased awareness of ECD have led to a dramatic improvement in prognosis. 13 In general, initiation of therapy is recommended for all patients rather than observation, with the uncommon exception of patients with asymptomatic disease.…”

“… 10 Therefore, ECD should be diagnosed and treated early, combined with IFN‐α, vemurafenib, glucocorticoids and surgical treatment to prolong the survival of patients. 13 The refinement of treatment approaches and the increased awareness of ECD have led to a dramatic improvement in prognosis. 13 …”