Bilateral adrenal infiltration in Erdheim-Chester disease. Report of seven cases and literature review.

CONTEXT: Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis characterized by xanthomatous tissue infiltration with CD68(+) CD1a(-) foamy histiocytes. Endocrine problems, such as diabetes insipidus and hypogonadotropic hypogonadism, frequently occur in ECD, but bilateral adrenal infiltration has rarely been reported in this disease. OBJECTIVE: The aim of the study was to describe adrenal and periadrenal infiltration in ECD. PATIENTS: A total of 22 patients with ECD undergoing systematic computed tomography to search for signs of adrenal enlargement participated in the study. RESULTS: Of the 22 patients with ECD, seven (31.8%) displayed adrenal infiltration on computed tomography. In one case, autopsy confirmed that the adrenal enlargement was due to foamy histiocyte infiltration in the adrenal glands. Possible adrenal insufficiency was assessed in five of the seven patients. One developed signs of adrenal insufficiency, which was confirmed by adrenocorticotropin stimulation tests. Adrenal involvement was reported in only 15 of the 240 ECD cases published up to May 2006. This frequency is significantly lower than that in our series (P = 0.0008; Fisher's exact test). CONCLUSION: Physicians should be aware of ECD as a possible cause of morphological changes in adrenal size and infiltration.

Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review.

Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown origin. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by spumous ("foamy") histiocytes. As of this writing, 178 cases have been reported. ECD is characterized by heterogeneous systemic manifestations. Bone pain is the most frequent symptom. About half of all patients have extraskeletal manifestations. Cardiovascular manifestations of ECD remain underestimated. We report 6 new cases of ECD associated with periaortic fibrosis. In 4 of these cases, the whole aorta had a "coated" aspect. A literature review revealed 66 cases of ECD with cardiovascular involvement. We therefore analyzed 72 ECD patients with cardiovascular involvement: 40 (55.6%) had periaortic "fibrosis," 32 (44.4%) had pericardial involvement, and 22 (30.6%) had myocardial involvement. Six had a right atrial tumor. Symptomatic valvular heart disease (3 aortic and 3 mitral regurgitations) was found in 6 patients. Nineteen patients (26.4%) had heart failure, leading to death in 8 cases. Six patients had renovascular hypertension related to perirenal artery stenosis. Data concerning follow-up were available for 58 (80.6%) patients. Of these, 35 (60.3%) patients died, confirming the severe prognosis of ECD. Cardiovascular complications were responsible for the death of 11 of the 35 patients (31.4%).

Bone involvement in Erdheim-Chester disease: imaging findings including periostitis and partial epiphyseal involvement.

PURPOSE: To retrospectively review the bone findings at radiography, scintigraphy, computed tomography (CT), and magnetic resonance (MR) imaging in 11 patients with immunohistochemical and histologic proof of Erdheim-Chester disease. MATERIALS AND METHODS: This study was designed as a retrospective review; approval of the institutional review board and patient consent were not required for this type of study. Eleven patients (eight men and three women; mean age, 49 years; range, 17-68 years) with Erdheim-Chester disease underwent conventional radiography of the skeleton and bone scintigraphy. Two patients underwent CT of the femora and 10 underwent CT of the skull. Eight patients underwent MR imaging. Conventional radiographs, bone scintigrams, CT scans, and MR images were reviewed in consensus by four musculoskeletal radiologists. RESULTS: All 11 patients had involvement of the long bones and normal axial skeleton, hands, and feet. Bilateral and symmetric osteosclerosis of the diaphysis of the long bones was present in 52 (26 pairs) (98%) of the 53 bone lesions visible on conventional radiographs. Osteosclerosis was heterogeneous in 65% of the patients and homogeneous in 35%. Diaphysis was involved in 100% and metaphysis in 44 (83%) lesions. Partial epiphyseal involvement sparing the subchondral bone was present in 24 (45%) lesions. Periostitis was seen in 35 (66%) and endosteitis in 50 (94%) of the 53 long bones involved. Bone scintigraphy depicted tracer uptake in all bone lesions visible on radiographs. Skull and face bone lesions were present in two patients. MR imaging depicted a replacement of the normal fatty bone marrow by heterogeneous signal intensity on T1- and T2-weighted spin-echo images. Lesion extent, epiphyseal involvement, and periostitis were clearly depicted at MR imaging. CONCLUSION: This series provides a detailed description of bone involvement in Erdheim-Chester disease. Periostitis and partial epiphyseal involvement of the long bones are also features of this disease. (c) RSNA, 2005.