Recent advances in therapeutic strategies of Erdheim-Chester disease

Abstract

Erdheim-Chester disease (ECD) is a rare form of non-LCH characterized by excessive accumulation of histiocytes in various tissues, leading to significant morbidity. The estimated prevalence of ECD is low, with fewer than 1000 cases reported globally, yet it presents considerable clinical challenges due to its heterogeneous manifestations, which include bone pain, cardiovascular complications, and neurological symptoms. Traditional treatment approaches, primarily involving corticosteroids and chemotherapy, have limitations, including inconsistent responses and significant side effects. Recent advances in understanding the pathogenesis of ECD, particularly the role of the BRAF V600E mutation, have led to the exploration of novel therapeutic strategies, such as targeted BRAF inhibitors, MEK and mTOR inhibitors, and other immunotherapies, which offer promise in improving patient outcomes. The review further explores clinical manifestations, and radiographic features of Erdheim-Chester disease, and discusses treatment strategies, current clinical studies in the field of ECD. By integrating these aspects, this review aims to provide a thorough understanding of ECD and its evolving treatment landscape, ultimately contributing to improved patient outcomes.

Keywords: BRAF inhibitors; Clinical studies; ECD; Erdheim-Chester disease; MEK inhibitors; MTOR inhibitors; Radiographic features; Targeted therapies; Treatment strategies.