Erdheim-Chester disease: A report of two cases in university hospitals in Rio de Janeiro

Abstract

Erdheim-Chester disease is a rare, non-hereditary histiocytosis characterized by the absence of Langerhans cell markers CD1a and Birbeck granules in its histiocytes. According to the literature, Erdheim-Chester disease is more prevalent in adult men, with an average age of 55 years. The most common symptoms are: bone pain, diabetes insipidus, and alterations in the nervous, cardiovascular and pulmonary systems. The diagnosis is based on radiological and anatomopathological findings, and treatment remains challenging in clinical practice. The objective of this study is to report two cases of Erdheim-Chester disease followed up in university hospitals in the city of Rio de Janeiro, describing the epidemiology, the main sites of involvement, the diagnostic process and the treatments instituted for these patients. As for gender, the patients in this study were a man and a woman, with ages at diagnosis of 80 and 54 years, respectively. In the first case, involvement of the central nervous, cardiovascular and renal systems was described, and corticosteroid therapy was started to improve neurological symptoms. A search for the BRAFV600E mutation was requested in the biopsy of the renal lesion and new laboratory tests, to evaluate starting the treatment with vemurafenib or interferon alpha. However, the patient died soon afterwards due to sepsis with an abdominal focus. In the second case there was pulmonary involvement, and presence of skin rash on the abdomen, whose skin lesion biopsy revealed numerous Langerhans cells, leading to a diagnosis of Langerhans cell histiocytosis (LCH). The immunohistochemical and anatomopathological reports of the lung biopsy showed positive histiocytic components positive for CD68 and CD163 and negative for CD1a and CD207, with the morphological aspect, although not pathognomonic, suggestive of Erdheim-Chester disease. In the postoperative period, the patient presented with an infection of a probable pulmonary focus, and died. Due to the early death of the two patients, it was not possible to analyze the therapies offered. There was great diagnostic difficulty in both cases, partly explained by the rarity of the disease, and also for the need of different technical tools for the diagnosis, which are difficult to obtain, especially in public health, which limits the discovery of the condition in the early stages and a better prognosis.