Erdheim-Chester disease

Albert Selva-O'Callaghan, Senior Consultant,

Other Contributors:

February 26, 2013

Dear Editor,

We read with interest the excellent study published by Cavalli et al.1 in ARD and would like to voice some considerations. Although heterogeneity is the rule in the clinical presentation of patients with Erdheim-Chester disease (ECD), some manifestations should be regarded as diagnostic triggers of this condition. The presence of unexpected interstitial lung disease on chest radiography, a coated aorta or "hairy" kidneys on abdominal CT scanning, an ocular proptosis of unknown etiology, or a "pseudotumoral" infiltration of the right atrium detected on echocardiography should point to the diagnosis of ECD, especially if neuroendocrine axis manifestation are also present. 2

The data reported by the authors addressing the most frequent presentations at onset is of value. Nevertheless, it is unlikely that skeletal, constitutional symptoms, or even neurologic manifestations, in themselves, will lead to the diagnosis of ECD, given their lack of specificity. We agree with the authors that ECD is a highly overlooked entity, but an awareness of the specific diagnostic triggers, as mentioned above, and a review of the pathologic samples when clinical suspicion is strong will undoubtedly help to achieve the correct diagnosis.

Juanos-Iborra, Montserrat, MD(a) Solanich-Moreno, Javier, MD(b) Selva-O'Callaghan, Albert, MD, PhD(a) (a)Internal Medicine Department, Vall d'Hebron General Hospital, Universitat Autonoma de Barcelona, Barcelona, Spain (b)Internal Medicine Departmente, Bellvitge Hospital, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain


1. Cavalli G, Guglielmi B, Berti A, et al. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. Ann Rheum Dis. Published Online First: [ February 8, 2013] doi:10.1136/annrheumdis-2012-202542

2. Juan?s-Iborra M, Selva-O'Callaghan A, Solanich-Moreno J, et al. Erdheim -Chester disease: study of 12 cases. Med Clin (Barc). 2012; 139:398-403.

Conflict of Interest:

None declared

Conflict of Interest

None declared