Background Erdheim-Chester disease (ECD) is a rare, inflammatory disease of unknown etiology, characterized by the infiltration of non-Langerhans histiocytes. ECD typically involves long bones, with almost pathognomonic nuclear medicine finding. The overall prognosis is poor. Although the overall prevalence of ECD is low, it is still a largely overlooked diagnosis. Its broad clinical spectrum at presentation is often elusive, since infiltration of different organs may lead to disparate and confounding manifestations. Moreover, as subsequent manifestations can develop over years, a timely assessment of the diagnosis can be difficult.
Objectives To characterize the presentation of ECD at the time of onset and the evolution of the clinical picture, with particular reference to the symptoms which induced patients to seek medical attention.
Methods We analyzed the presentation at the time of onset, at diagnosis, and the subsequent clinical manifestations in a cohort of 10 ECD patients followed up at our Institution. Moreover we searched the English-language medical literature indexed in PubMed using the keyword “Erdheim-Chester” or “Erdheim-Chester disease”, including in our analysis the histologically-proven cases. Moreover, we divided the cumulative cohort of patients in three groups according to the patient age at presentation (<40, 40-69, >70 years), and performed on the different subgroups the same analyses.
Results We found 249 patients in the literature fulfilling the proposed criteria. In the cumulative group of 259 patients, the overall frequency of symptoms at onset and during the whole course of the disease were, respectively: skeletal (bone pain and/or bone masses), in 26 and 47% of patients; diabetes insipidus, in 22 and 26%; neurological, in 22 and 49%; constitutional, in 19 and 25%); related to retroperitoneal involvement, in 14 and 34%; pulmonary in 12 and 20%; cutaneous, in 11 and 23%; cardiovascular, in 7 and 22%. Under 40 years of age, the presenting symptoms were: neurological (35%), skeletal (29%), diabetes insipidus (29%), constitutional (15%), pulmonary (4%). Between 40-69 years the presenting symptoms were: skeletal (24%), diabetes insipidus, neurologic and constitutional (21%), related to retroperitoneal (21%), pulmonary (14%), cardiac (8%). Over 70 years of age the presentations were: skeletal (32%), pulmonary (20%), diabetes insipidus (20%), neurologic (12%), cardiac (12%), related to retroperitoneal involvement (4%).
Conclusions ECD manifests in the general population more frequently with skeletal symptoms (bone pain and/or masses), diabetes insipidus, neurologic, and constitutional symptoms. Interestingly, diabetes insipidus and constitutional symptoms due to ECD, if not present early in the course, only rarely develop. There seem to be differences in ECD presentation and course in specific age-groups. Physicians should be aware of this clinical entity to consider it in the differential diagnosis of many different clinical manifestations.
Veyssier-Belot C et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine 1996; 75:157-69.
Haroche J et al. Erdheim-Chester disease. Curr Opin Rheumatol 2012; 24: 53-9
Disclosure of Interest None Declared
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