Erdheim-Chester disease (ECD) is a rare non-Langerhans cell, non-familial multisystemic granulomatosis, with widespread manifestations and of highly variable severity. The most common presenting symptom is bone pain.
Erdheim-Chester disease is a rare, non-inherited disease of middle age with a slight male predominance .
Patients may present with a variety of symptoms, ranging from focal neurological deficits to multi-organ failure . The most common presenting symptom is bone pain. Patients may also present with focal neurological signs, exophthalmos, retroperitoneal fibrosis, diabetes insipidus, and dyspnoea due to extra-skeletal involvement of these systems.
Erdheim-Chester disease is a systemic lipogranulomatous disorder with infiltration by lipid-laden histiocytes (foamy macrophages), Touton giant cells and a variable amount of background fibrosis . In contrast to Langerhans cell histiocytosis (LCH) no S-100 nor CD1 are detected , but CD68 is positive 10.
Both ECD and LCH may coexist, and cases of double infiltration have been reported 10.
Musculoskeletal involvement is most common, with multifocal extraskeletal involvement seen in 30-50% of patients 1,2.
- bilateral, symmetric metaphyseal and diaphyseal sclerosis 1,2
- increased uptake on Tc-MDP bone scan
- cortical thickening
- lung (see: pulmonary manifestations of Erdheim-Chester disease)
- kidneys and retroperitoneum
- often involved
- usually asymptomatic
- hairy kidney sign: irregular symmetric infiltration of the bilateral perirenal and posterior pararenal spaces 11
- coated aorta sign: periaortic soft tissue 11
- inferior vena cava and pelvic ureters are typically spared, which are useful cross-sectional imaging findings for differentiation of retroperitoneal Erdheim-Chester disease from retroperitoneal fibrosis
- retro-orbital tissue
- retrograde extension along the optic nerve to the hypothalamus may explain the distribution of brain involvement
- heart, pericardium and aorta
Intracranial involvement of the dura, brain and pituitary are rare :
- dural accumulations, may mimic meningiomas, with enhancing soft tissue masses
- T2 signal characteristics are somewhat different, as the accumulations in ECD are hypointense
- brain: usually the hypothalamus ; intraparenchymal masses in ECD appear nonspecific 10
- pituitary infundibulum: presenting with diabetes insipidus
Treatment and prognosis
Steroids, radiotherapy and chemotherapy have all been used but with little effect, with some patients relentlessly progressing . Pulmonary fibrosis and cardiac failure are the most common causes of death . Given the small volume of published data, mortality rates are sketchy, but may be as high as 60% .
Surgical or percutaneous intervention for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease.
History and etymology
It was first described in 1930 as "lipid granulomatosis" by Jakob Erdheim (1874-1937), an Austrian pathologist, and William Chester, an American pathologist .