Enfermedad de Erdheim-Chester desafío diagnóstico e implicaciones terapéuticas

Abstract

Introduction: Erdheim–Chester disease (ECD) is a rare disorder of unknown etiology that typically presents between the second and seventh decades of life, with a mean age of onset of 46 years. It is characterized by the abnormal proliferation and infiltration of non-Langerhans cell histiocytes. It can be asymptomatic or present with localized symptoms ―with bone involvement as the main clinical sign―, or lead to systemic complications. Diagnosis is based on clinical, imaging, and histopathological findings that confirm the disease. Currently, treatment for ECD includes FDA-approved BRAF inhibitors. The prognosis for ECD is currently favorable, in part due to the introduction of BRAF inhibitors to the market in 2016. General Objective: To describe the diagnostic methods, various treatment modalities, and prognosis of the Erdheim–Chester disease. Methodology: This is a descriptive, non-experimental literature review. Data were collected through the Elsevier, ScienceDirect, SciELO, and PubMed databases. Inclusion and exclusion criteria were applied, employing keywords such as: Edrheim–Chester disease, diagnostic, treatment, and histiocytes. Finally, Boolean operators, including AND, OR, and NOT, were employed. Results: The literature review revealed that current therapeutic regimens include interferon alpha as the first-line treatment. Likewise, IL-6 receptor antagonists and anti-TNF-α inhibitors are available for treatment. ECD represents a challenge for physicians; however, its identification is essential; therefore, it is crucial to consider three main aspects, including clinicopathological findings, complemented by nonspecific radiological findings.