This site is targeted at medical and radiology professionals, contains user contributed content, and material that may be confusing to a lay audience. Use of this site implies acceptance of our Terms of Use.

Erdheim-Chester disease

Erdheim-Chester disease (ECD) is a rare non-Langerhan's cell, non-familial granulomatosis, with widespread manifestations and of highly variable severity 1

Epidemiology

Erdheim-Chester disease is a rare, non-inherited disease of middle age with a slight male predominance 6.

Clinical Presentation

Patients may present with a focal symptoms through to multi-system involvement and failure 5.  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.

Pathology

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 2. In contrast to histiocytosis X no S-100 nor CD1 are detected 1.

Radiographic features

Musculoskeletal involvement is most common, with multifocal extraskeletal involvement seen in 30-50% of patients 1,2.

Skeletal involvement
  • bilateral, symmetric metaphyseal and diaphyseal sclerosis 1,2
  • increased uptake on Tc-MDP bone scan 7
  • cortical thickening
Visceral
  • lung
  • kidneys and retroperitoeum
    • often involved
    • usually asymptomatic 1
    • IVC  and  pelvic  ureters  are typically  spared, which  are useful cross-sectional imaging findings   for   differentiation   of retroperitoneal Erdheim-Chester disease from  retroperitoneal fibrosis.8
  • skin
  • retro-orbital tissue
    • retrograde extension along the optic nerve to the hypothalamus may explain the distribution of brain involvement 4
  • heart, pericardium and aorta 2
Intracranial

Intracranial involvement of the dura, brain and pituitary are rare 3.

  • meninges
    • dural accumulations, may mimic meningiomas, with enhancing soft tissue masses. T2 signal characteristics are somewhat different, as the accumulations in ECD are hypointense 3
  • brain : usually the hypothalamus 3
  • 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 1. Pulmonary fibrosis and cardiac failure are the most common causes of death 2. Given the small volume of published data, mortality rates are sketchy, but may be as high as 60% 2

Surgical or percutaneous intervention on hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease.

Updating… Please wait.
Loadinganimation

 Details successfully updated.

Error Unable to process the form. Check for errors and try again.

 Thank you for updating your details.