Abstract
Purpose
The authors retrospectively reviewed six cases of histologically proven Erdheim-Chester disease (ECD) to evaluate organ involvement and clinical and radiological findings.
Materials and methods
Through a search of the pathology databases of four Italian hospitals, we identified six men (mean age, 56 years) with a histological diagnosis of ECD. Histology was performed on retroperitoneal or pulmonary biopsy, depending on disease involvement on imaging. Patients underwent plain radiography of the lower limbs and chest, total-body computed tomography (CT) and bone scintigraphy. Magnetic resonance (MR) imaging was performed in two patients to evaluate the lower limbs and in one patient to study the brain, the chest and the abdomen.
Results
Clinical manifestations included dyspnoea (n=2), hydronephrosis (n=2) and bone pain (n=1). Bilateral symmetrical osteosclerosis of the metaphyseal and diaphyseal portions of the lower-limb long bones was present in five patients. Imaging studies revealed extraskeletal manifestations in all patients, including involvement of the retroperitoneal space (n=4), the lung (n=4) and the heart (n=2).
Conclusions
ECD is a multiorgan disease that displays constant involvement of the bones and retroperitoneum; in particular, of the perirenal fat. Although the diagnosis of ECD is histological, imaging can raise suspicion and help to establish a presumptive diagnosis.
Riassunto
Obiettivo
Valutare retrospettivamente la prevalenza dell’impegno nei differenti organi e gli aspetti clinico-radiologici in 6 pazienti con diagnosi istologica di malattia di Erdheim-Chester.
Materiali e metodi
Sono stati identificati nel data base dell’unità operativa di anatomia patologica di quattro ospedali italiani, sei pazienti con ECD, di sesso maschile, con età media di 56 anni. L’esame istologico era stato effettuato mediante biopsie retroperitoneali o polmonari, a seconda dell’impegno della patologia, valutato sull’imaging radiologico. I pazienti erano stati sottoposti a: indagine radiografica standard degli arti inferiori e del torace, tomografia computerizzata toracica e addominale e scintigrafia ossea. In due pazienti è stata eseguita risonanza magnetica (RM) per una valutazione degli arti inferiori. Un paziente fu sottoposto ad RM dell’encefalo, del torace e dell’addome.
Risultati
Le manifestazioni cliniche comprendevano: dispnea (2 pazienti), idronefrosi (2 pazienti) e dolore osseo (1 paziente). L’osteosclerosi bilaterale simmetrica delle metafisi e delle diafisi degli arti inferiori era presente nella maggior parte dei pazienti (5). Gli esami radiologici documentavano localizzazioni extraossee in tutti i pazienti: retroperitoneale (4 pazienti), polmonare (4 pazienti) e cardiaco (2 pazienti).
Conclusioni
L’ECD è una malattia multiorgano che coinvolge sempre, nella nostra esperienza, il tessuto scheletrico ed il retroperitoneo, in particolare gli spazi perirenali. La diagnosi di natura dell’ECD è istologica, tuttavia il sospetto diagnostico può essere agevolmente posto con l’imaging radiologico.
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De Filippo, M., Ingegnoli, A., Carloni, A. et al. Erdheim-Chester disease: clinical and radiological findings. Radiol med 114, 1319–1329 (2009). https://doi.org/10.1007/s11547-009-0473-8
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DOI: https://doi.org/10.1007/s11547-009-0473-8