Diagnosing Erdheim–Chester disease

Undoubtedly, as the authors themselves stated and as highlighted in our recent study published in this journal, other more typical manifestations of ECD, such as the radiological evidence of 'coated aorta', 'hairy kidneys' or 'pseudotumoural' infiltration of the right atrium, as well as the typical bone scan finding of a symmetrical and abnormally increased uptake in the distal ends of long bones, should be clearly indicative of the disease. 1-3 However, our study and others, including the descriptions of the largest reported cohort of patients with ECD, highlighted a striking diagnostic delay (up to 29 years), even in those patients presenting with the aforementioned typical manifestations. 3-5 To allow a more timely diagnosis, we believe that the broader medical audience should be privy to both the specific and sensitive manifestations of this protean and multifaceted disease.